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NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 7, 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:
RCV000618320.10

Allele description [Variation Report for NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)]

NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)

Genes:
LOC114827851:VISTA enhancer hs2155 [Gene]
MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)
HGVS:
  • NC_000014.9:g.23404731C>T
  • NG_023444.1:g.8547G>A
  • NG_065207.1:g.264C>T
  • NM_002471.4:c.622G>AMANE SELECT
  • NP_002462.2:p.Asp208Asn
  • NP_002462.2:p.Asp208Asn
  • LRG_389t1:c.622G>A
  • LRG_389:g.8547G>A
  • LRG_389p1:p.Asp208Asn
  • NC_000014.8:g.23873940C>T
  • NM_002471.3:c.622G>A
  • c.622G>A
Protein change:
D208N
Links:
dbSNP: rs142027794
NCBI 1000 Genomes Browser:
rs142027794
Molecular consequence:
  • NM_002471.4:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000735320Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(Jun 7, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000735320.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024