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NM_000257.4(MYH7):c.115G>A (p.Val39Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 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:
RCV003162305.2

Allele description [Variation Report for NM_000257.4(MYH7):c.115G>A (p.Val39Met)]

NM_000257.4(MYH7):c.115G>A (p.Val39Met)

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.115G>A (p.Val39Met)
HGVS:
  • NC_000014.9:g.23433618C>T
  • NG_007884.1:g.7044G>A
  • NM_000257.4:c.115G>AMANE SELECT
  • NP_000248.2:p.Val39Met
  • LRG_384t1:c.115G>A
  • LRG_384:g.7044G>A
  • NC_000014.8:g.23902827C>T
  • NM_000257.2:c.115G>A
  • NM_000257.3:c.115G>A
  • P12883:p.Val39Met
  • c.115G>A
Protein change:
V39M
Links:
UniProtKB: P12883#VAR_019845; dbSNP: rs376160714
NCBI 1000 Genomes Browser:
rs376160714
Molecular consequence:
  • NM_000257.4:c.115G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003909805Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 2, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003909805.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.115G>A (p.V39M) alteration is located in exon 3 (coding exon 1) of the MYH7 gene. This alteration results from a G to A substitution at nucleotide position 115, causing the valine (V) at amino acid position 39 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024