NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 8, 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:: RCV000247619.11

Allele description [Variation Report for NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)]

NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)

Genes:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)

Other names:

NM_000257.3(MYH7):c.4377G>T

HGVS:

NC_000014.9:g.23417295C>A
NG_007884.1:g.23367G>T
NM_000257.4:c.4377G>TMANE SELECT
NP_000248.2:p.Lys1459Asn
LRG_384t1:c.4377G>T
LRG_384:g.23367G>T
NC_000014.8:g.23886504C>A
NM_000257.2:c.4377G>T
NM_000257.3:c.4377G>T
NR_126491.1:n.735C>A
P12883:p.Lys1459Asn
c.4377G>T

Protein change:

K1459N

Links:

UniProtKB: P12883#VAR_042828; dbSNP: rs201307101

NCBI 1000 Genomes Browser:

rs201307101

Molecular consequence:

NM_000257.4:c.4377G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_126491.1:n.735C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000319737	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Apr 8, 2020)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 15358028, 17125710, 19150014, 21127202, 24093860, 25637381, 27247418 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000319737

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Apr 8, 2020)

germline

clinical testing

PubMed (7)
[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

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Aug 4;44(3):602-10.

PubMed [citation]

PMID:: 15358028

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].

Laredo R, Monserrat L, Hermida-Prieto M, Fernández X, Rodríguez I, Cazón L, Alvariño I, Dumont C, Piñón P, Peteiro J, Bouzas B, Castro-Beiras A.

Rev Esp Cardiol. 2006 Oct;59(10):1008-18. Spanish. Erratum in: Rev Esp Cardiol. 2007 May;60(5):557.

PubMed [citation]

PMID:: 17125710

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000319737.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

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: Nov 10, 2024

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