NM_000257.4(MYH7):c.2514G>A (p.Pro838=) AND Cardiomyopathy

Clinical significance:Benign (Last evaluated: Dec 15, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000758022.2

Allele description [Variation Report for NM_000257.4(MYH7):c.2514G>A (p.Pro838=)]

NM_000257.4(MYH7):c.2514G>A (p.Pro838=)

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.2514G>A (p.Pro838=)
Other names:
NM_000257.3(MYH7):c.2514G>A
HGVS:
  • NC_000014.9:g.23424934C>T
  • NG_007884.1:g.15728G>A
  • NM_000257.4:c.2514G>AMANE SELECT
  • NP_000248.2:p.Pro838=
  • LRG_384t1:c.2514G>A
  • LRG_384:g.15728G>A
  • NC_000014.8:g.23894143C>T
  • NM_000257.2:c.2514G>A
  • NM_000257.3:c.2514G>A
  • c.2514G>A
  • p.Pro838Pro
Links:
dbSNP: rs45560638
NCBI 1000 Genomes Browser:
rs45560638
Molecular consequence:
  • NM_000257.4:c.2514G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000564491ClinGen Cardiomyopathy Variant Curation Expert Panelreviewed by expert panel
Benign
(Dec 15, 2016)
germlinecuration

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

Citation Link,

SCV000913796Color Health, Inccriteria provided, single submitter
Benign
(Oct 21, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Citations

PubMed

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, et al.

Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4.

PubMed [citation]
PMID:
29300372
PMCID:
PMC5876064

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From ClinGen Cardiomyopathy Variant Curation Expert Panel, SCV000564491.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The filtering allele frequency of the c.2514G>A (p.Pro838=) variant in the MYH7 gene is 0.18% (27/10404) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Color Health, Inc, SCV000913796.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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