NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 16, 2020
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:: RCV002453547.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)]

NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)

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.3551A>T (p.Gln1184Leu)

Other names:

p.Q1184L:CAG>CTG

HGVS:

NC_000014.9:g.23420020T>A
NG_007884.1:g.20642A>T
NM_000257.4:c.3551A>TMANE SELECT
NP_000248.2:p.Gln1184Leu
LRG_384t1:c.3551A>T
LRG_384:g.20642A>T
NC_000014.8:g.23889229T>A
NM_000257.2:c.3551A>T
NM_000257.3:c.3551A>T

Protein change:

Q1184L

Links:

dbSNP: rs546586969

NCBI 1000 Genomes Browser:

rs546586969

Molecular consequence:

NM_000257.4:c.3551A>T - 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
SCV002617315	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Sep 16, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002617315

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Sep 16, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I.

Circulation. 2018 Oct 2;138(14):1387-1398. doi: 10.1161/CIRCULATIONAHA.117.033200. Epub 2018 Aug 23.

PubMed [citation]

PMID:: 30297972
PMCID:: PMC6170149

Details of each submission

From Ambry Genetics, SCV002617315.2

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

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: May 7, 2024

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