ConVarT

ClinVar Data

Show entries

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic
14134	29173	rs267606901	single nucleotide variant	NM_002474.3(MYH11):c.3824G>T (p.Arg1275Leu)	p.Arg1275Leu	Uncertain significance	Cardiovascular phenotype	criteria provided, single submitter	RCV000251625
14135	29174	rs267606902	single nucleotide variant	NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)	p.Arg712Gln	Pathogenic/Likely pathogenic	Aortic aneurysm, familial thoracic 4\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|not provided	criteria provided, multiple submitters, no conflicts	RCV000015196\|RCV000157330\|RCV000617057\|RCV001557760
14135	29174	rs267606902	single nucleotide variant	NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)	p.Arg712Gln	Pathogenic/Likely pathogenic	Aortic aneurysm, familial thoracic 4\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|not provided	criteria provided, multiple submitters, no conflicts	RCV000015196\|RCV000157330\|RCV000617057\|RCV001557760
36616	45278	rs12931799	single nucleotide variant	NM_002474.3(MYH11):c.2208C>T (p.Ile736=)	p.Ile736=	Benign	Familial aortopathy\|not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|Aortic aneurysm, familial thoracic 4	criteria provided, multiple submitters, no conflicts	RCV000030294\|RCV000126934\|RCV000243057\|RCV000621360\|RCV000755577
36618	45280	rs193922629	single nucleotide variant	NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr)	p.Ile1078Thr	Uncertain significance	not specified\|Cardiovascular phenotype\|Aortic aneurysm, familial thoracic 4\|not provided	criteria provided, multiple submitters, no conflicts	RCV000030296\|RCV000617813\|RCV000641574\|RCV001753433
36620	45282	rs112990531	single nucleotide variant	NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)	p.Glu1272=	Conflicting interpretations of pathogenicity	Familial aortopathy\|not specified\|Cardiovascular phenotype\|not provided\|Familial thoracic aortic aneurysm and aortic dissection\|Aortic aneurysm, familial thoracic 4	criteria provided, conflicting interpretations	RCV000030298\|RCV000126942\|RCV000243635\|RCV000757515\|RCV000776089\|RCV001079975
36621	45283	rs11648119	single nucleotide variant	NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)	p.Lys1590=	Benign/Likely benign	Familial aortopathy\|not specified\|Aortic aneurysm, familial thoracic 4\|Lissencephaly 4\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|none provided	criteria provided, multiple submitters, no conflicts	RCV000030299\|RCV000126956\|RCV000230875\|RCV000279480\|RCV000252040\|RCV000617089\|RCV001283043
36622	45284	rs34321232	single nucleotide variant	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	p.Lys1621Gln	Uncertain significance	not specified\|Aortic aneurysm, familial thoracic 4\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|Connective tissue disease\|not provided	criteria provided, multiple submitters, no conflicts	RCV000182562\|RCV000554857\|RCV000611869\|RCV000619199\|RCV000659924\|RCV000762209
71998	82889	N/A	single nucleotide variant	NM_002474.3(MYH11):c.254C>T (p.Ser85Phe)	p.Ser85Phe	Uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	criteria provided, single submitter	RCV001176690
88953	94510	rs201831933	single nucleotide variant	NM_002474.3(MYH11):c.3791T>C (p.Leu1264Pro)	p.Leu1264Pro	Conflicting interpretations of pathogenicity	Aortic aneurysm, familial thoracic 4\|not provided\|Cardiovascular phenotype	criteria provided, conflicting interpretations	RCV000144438\|RCV000182510\|RCV000243616
138327	142030	rs2272554	single nucleotide variant	NM_002474.3(MYH11):c.1743T>C (p.Ala581=)	p.Ala581=	Benign	not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|Aortic aneurysm, familial thoracic 4	criteria provided, multiple submitters, no conflicts	RCV000126931\|RCV000250326\|RCV000621221\|RCV001094462
138328	142031	rs880071	single nucleotide variant	NM_002474.3(MYH11):c.2061C>T (p.Ser687=)	p.Ser687=	Benign	not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|Aortic aneurysm, familial thoracic 4	criteria provided, multiple submitters, no conflicts	RCV000126932\|RCV000242575\|RCV000617498\|RCV000757511
138329	142032	rs34287137	single nucleotide variant	NM_002474.3(MYH11):c.2079C>T (p.Phe693=)	p.Phe693=	Benign	not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Aortic aneurysm, familial thoracic 4\|Cardiovascular phenotype	criteria provided, multiple submitters, no conflicts	RCV000126933\|RCV000245053\|RCV000476074\|RCV000617049
138330	142033	rs1050113	single nucleotide variant	NM_002474.3(MYH11):c.2472C>T (p.Ala824=)	p.Ala824=	Benign	not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|Aortic aneurysm, familial thoracic 4	criteria provided, multiple submitters, no conflicts	RCV000126936\|RCV000245386\|RCV000621372\|RCV001094377
138332	142035	rs137988790	single nucleotide variant	NM_002474.3(MYH11):c.2961C>T (p.Ile987=)	p.Ile987=	Conflicting interpretations of pathogenicity	not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|Aortic aneurysm, familial thoracic 4	criteria provided, conflicting interpretations	RCV000126938\|RCV000275069\|RCV000619510\|RCV001000653
138333	142036	rs34263860	single nucleotide variant	NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr)	p.Ala1104Thr	Benign	not specified\|Aortic aneurysm, familial thoracic 4\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype	criteria provided, multiple submitters, no conflicts	RCV000126939\|RCV000231857\|RCV000243422\|RCV000617045
138334	142037	rs16967494	single nucleotide variant	NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr)	p.Ala1234Thr	Benign	not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Lissencephaly, Recessive\|Cardiovascular phenotype\|Aortic aneurysm, familial thoracic 4	criteria provided, multiple submitters, no conflicts	RCV000126941\|RCV000253396\|RCV000359456\|RCV000617806\|RCV000755575
138335	142038	rs113154524	single nucleotide variant	NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)	p.Ala1276=	Benign/Likely benign	not specified\|Aortic aneurysm, familial thoracic 4\|Familial thoracic aortic aneurysm and aortic dissection\|Cardiovascular phenotype\|Connective tissue disease\|not provided	criteria provided, multiple submitters, no conflicts	RCV000126943\|RCV000226099\|RCV000246310\|RCV000617050\|RCV000659912\|RCV001092821
138337	142040	rs16967510	single nucleotide variant	NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)	p.Val1289Ala	Benign/Likely benign	not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Lissencephaly, Recessive\|Aortic aneurysm, familial thoracic 4\|Cardiovascular phenotype\|Lissencephaly 4\|none provided	criteria provided, multiple submitters, no conflicts	RCV000126945\|RCV000242975\|RCV000274667\|RCV000467652\|RCV000617351\|RCV001116427\|RCV001282375
138338	142041	rs12907	single nucleotide variant	NM_002474.3(MYH11):c.3967C>T (p.Leu1323=)	p.Leu1323=	Benign	not specified\|Familial thoracic aortic aneurysm and aortic dissection\|Lissencephaly, Recessive\|Aortic aneurysm, familial thoracic 4\|Cardiovascular phenotype\|Lissencephaly 4\|none provided	criteria provided, multiple submitters, no conflicts	RCV000126946\|RCV000250829\|RCV000383596\|RCV000473858\|RCV000622097\|RCV001121347\|RCV001283047

Showing 1 to 20 of 1,355 entries

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gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
16-15802669-C-T	ENST00000576790	p.Ter1939Ter	Stop Retained Variant	0	0	0	rs1182973704
16-15802670-A-T	ENST00000576790	p.Ter1939ArgextTer47	Stop Lost	0	0	0	rs1365916121
16-15802673-G-A	ENST00000576790	p.Gln1938Ter	Stop Gained	0	0	0	rs370858630
16-15802674-C-G	ENST00000576790	p.Ser1937Ser	Synonymous Variant	0	0	0	rs373899395
16-15802675-G-A	ENST00000576790	p.Ser1937Leu	Missense Variant	1	31406	0.000032	rs754183610
16-15802682-C-T	ENST00000576790	p.Glu1935Lys	Missense Variant	0	0	0	rs377366100
16-15802684-T-C	ENST00000576790	p.Gln1934Arg	Missense Variant	0	0	0	rs761957202
16-15802685-G-T	ENST00000576790	p.Gln1934Lys	Missense Variant	0	0	0	rs765457680
16-15802686-T-G	ENST00000576790	p.Pro1933Pro	Synonymous Variant	0	0	0	rs759015770
16-15802686-T-TG	ENST00000576790	p.Gln1934ThrfsTer20	Frameshift Variant	7	31278	0.000224	rs759015770
16-15802686-T-TGG	ENST00000576790	p.Gln1934HisfsTer91	Frameshift Variant	0	0	0	rs759015770
16-15802686-TG-T	ENST00000576790	p.Pro1933HisfsTer91	Frameshift Variant	0	0	0	rs759015770
16-15802686-TGGG-T	ENST00000576790	p.Pro1933del	Inframe Deletion	0	0	0	rs759015770
16-15802687-G-A	ENST00000576790	p.Pro1933Leu	Missense Variant	0	0	0	rs111588143
16-15802687-G-C	ENST00000576790	p.Pro1933Arg	Missense Variant	4	31278	0.000128	rs111588143
16-15802687-G-T	ENST00000576790	p.Pro1933Gln	Missense Variant	117	31278	0.003741	rs111588143
16-15802688-G-A	ENST00000576790	p.Pro1933Ser	Missense Variant	2	31400	0.000064	rs200884440
16-15802688-G-C	ENST00000576790	p.Pro1933Ala	Missense Variant	0	0	0	rs200884440
16-15802688-G-T	ENST00000576790	p.Pro1933Thr	Missense Variant	0	0	0	rs200884440
16-15802689-G-C	ENST00000576790	p.Pro1932Pro	Synonymous Variant	1	31410	0.000032	rs1057524493

Showing 1 to 20 of 1,741 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
MYH11_ENST00000576790	ENST00000576790	TCGA-BQ-7061-01	kidney	carcinoma	91369397	c.2237C>A	p.A746D	Substitution - Missense	PATHOGENIC	.99479	Confirmed somatic variant	PMID: N/A	NS	746
MYH11_ENST00000576790	ENST00000576790	D01	NS	malignant_melanoma	91376463	c.2445C>T	p.A815=	Substitution - coding silent	PATHOGENIC	.81142	Confirmed somatic variant	PMID: 23890154	metastasis	815
MYH11_ENST00000576790	ENST00000576790	AOCS-085-1-2	ovary	carcinoma	91371981	c.3651+1056A>G	p.?	Unknown	NEUTRAL	.01219	Confirmed somatic variant	PMID: N/A	NS	0
MYH11_ENST00000576790	ENST00000576790	007-0020-01TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	91370373	c.210G>C	p.T70=	Substitution - coding silent	NEUTRAL	.1649	Confirmed somatic variant	PMID: N/A	NS	70
MYH11_ENST00000576790	ENST00000576790	GCTK_397_T	stomach	carcinoma	91378644	c.*11G>A	p.?	Unknown	PATHOGENIC	.82944	Confirmed somatic variant	PMID: N/A	primary	0
MYH11_ENST00000576790	ENST00000576790	TCGA-CZ-5468-01	kidney	carcinoma	91377755	c.3507G>C	p.R1169S	Substitution - Missense		.58476	Confirmed somatic variant	PMID: N/A	primary	1169
MYH11_ENST00000576790	ENST00000576790	TCGA-19-A6J5-01	central_nervous_system	glioma	91380115	c.4091G>A	p.R1364H	Substitution - Missense	PATHOGENIC	.917	Confirmed somatic variant	PMID: N/A	primary	1364
MYH11_ENST00000576790	ENST00000576790	TCGA-BH-A0EE-01	breast	carcinoma	91370993	c.630C>T	p.I210=	Substitution - coding silent	PATHOGENIC	.91805	Confirmed somatic variant	PMID: N/A	primary	210
MYH11_ENST00000576790	ENST00000576790	1T66	oesophagus	carcinoma	91370595	c.4024G>C	p.E1342Q	Substitution - Missense	PATHOGENIC	.96873	Confirmed somatic variant	PMID: N/A	primary	1342
MYH11_ENST00000576790	ENST00000576790	TCGA-AG-A02X-01	large_intestine	carcinoma	91371580	c.347C>T	p.T116M	Substitution - Missense	PATHOGENIC	.99753	Confirmed somatic variant	PMID: 22810696	primary	116
MYH11_ENST00000576790	ENST00000576790	YUZINO	skin	malignant_melanoma	91374240	c.3002G>A	p.R1001Q	Substitution - Missense	PATHOGENIC	.89104	Confirmed somatic variant	PMID: 22842228	metastasis	1001
MYH11_ENST00000576790	ENST00000576790	TCGA-EE-A3AG-06	skin	malignant_melanoma	91374892	c.4561G>A	p.D1521N	Substitution - Missense	PATHOGENIC	.94124	Confirmed somatic variant	PMID: N/A	NS	1521
MYH11_ENST00000576790	ENST00000576790	T_CCA_TH_12	biliary_tract	carcinoma	91369325	c.-18+724dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
MYH11_ENST00000576790	ENST00000576790	OSC3-IO3	ovary	carcinoma	91373592	c.5349T>A	p.N1783K	Substitution - Missense		.66148	Confirmed somatic variant	PMID: 27741368	NS	1783
MYH11_ENST00000576790	ENST00000576790	TARGET-30-PASAZZ-01A-01D	autonomic_ganglia	neuroblastoma	91375457	c.2059-3C>T	p.?	Unknown	NEUTRAL	.44948	Confirmed somatic variant	PMID: N/A	primary	0
MYH11_ENST00000576790	ENST00000576790	DA1600B	endometrium	carcinoma	91374494	c.502+4838G>T	p.?	Unknown	NEUTRAL	.00222	Confirmed somatic variant	PMID: N/A	primary	0
MYH11_ENST00000576790	ENST00000576790	DA1600B	endometrium	carcinoma	91374493	c.502+4840C>G	p.?	Unknown	NEUTRAL	.00826	Confirmed somatic variant	PMID: N/A	primary	0
MYH11_ENST00000576790	ENST00000576790	DN14011	breast	carcinoma	91375994	c.634-1146G>A	p.?	Unknown	NEUTRAL	.00093	Confirmed somatic variant	PMID: N/A	primary	0
MYH11_ENST00000576790	ENST00000576790	TCGA-BF-A1PX-01	skin	malignant_melanoma	91373759	c.1609G>T	p.E537*	Substitution - Nonsense	PATHOGENIC	.70712	Confirmed somatic variant	PMID: N/A	primary	537
MYH11_ENST00000576790	ENST00000576790	W10T	thyroid	carcinoma	91369327	c.1415A>T	p.E472V	Substitution - Missense	PATHOGENIC	.97931	Confirmed somatic variant	PMID: N/A	primary	472

Showing 1 to 20 of 1,066 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Ehlers-Danlos Syndrome	Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.567	0.483
Leukemia, Myelocytic, Acute	Neoplasms ;	0.567	0.483
Acute myelomonocytic leukemia	Neoplasms ;	0.567	0.483
Marfan Syndrome	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.567	0.483
Acute Myeloid Leukemia, M1	Neoplasms ;	0.567	0.483
Aortic Aneurysm, Thoracic	Cardiovascular Diseases ;	0.567	0.483
Congenital aneurysm of ascending aorta	Cardiovascular Diseases ;	0.567	0.483
Cystic medial necrosis of aorta	Neoplasms ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.567	0.483
Megacystis microcolon intestinal hypoperistalsis syndrome	Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.567	0.483
Aortic aneurysm, familial thoracic 4	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.567	0.483
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.567	0.483
Cakut	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.567	0.483
AML M4 Eo with inv(16) or t(16;16)	N/A	0.567	0.483
NO RESULT FOUND

Description:	myosin heavy chain 11 [Source:Xenbase;Acc:XB-GENE-6459772]
Synonyms:
Other ID(s):	XB-GENE-6459772
Protein Accession Numbers:	XP_017953065, XP_004918015
Statistics:	ClinVar(1355) gnomAD(1741) COSMIC(1066)

Classification of Clinicial Significance of ClinVar Data