NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 1, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002433495.9

Allele description [Variation Report for NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)]

NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)

Other names:

p.M982T:ATG>ACG; NM_000257.3(MYH7):c.2945T>C

HGVS:

NC_000014.9:g.23423701A>G
NG_007884.1:g.16961T>C
NM_000257.4:c.2945T>CMANE SELECT
NP_000248.2:p.Met982Thr
LRG_384t1:c.2945T>C
LRG_384:g.16961T>C
NC_000014.8:g.23892910A>G
NM_000257.2:c.2945T>C
NM_000257.3:c.2945T>C
c.2945T>C

Protein change:

M982T

Links:

dbSNP: rs145532615

NCBI 1000 Genomes Browser:

rs145532615

Molecular consequence:

NM_000257.4:c.2945T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002749991	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Aug 1, 2018)	germline	clinical testing	PubMed (15) [See all records that cite these PMIDs] 16754800, 20624503, 21499742, 23299917, 23861362, 24055113, 24119082, 24503780, 25351510, 26332594, 28265379, 28416588, 28807990, 28971120, 29915098 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002749991

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Aug 1, 2018)

germline

clinical testing

PubMed (15)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.

Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ.

Circulation. 2006 Jun 13;113(23):2697-705. Epub 2006 Jun 5.

PubMed [citation]

PMID:: 16754800

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R.

Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30.

PubMed [citation]

PMID:: 20624503

See all PubMed Citations (15)

Details of each submission

From Ambry Genetics, SCV002749991.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (15)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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