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NM_000257.4(MYH7):c.2846A>T (p.Glu949Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2019
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:
RCV004017297.1

Allele description [Variation Report for NM_000257.4(MYH7):c.2846A>T (p.Glu949Val)]

NM_000257.4(MYH7):c.2846A>T (p.Glu949Val)

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.2846A>T (p.Glu949Val)
Other names:
p.E949V:GAG>GTG
HGVS:
  • NC_000014.9:g.23423983T>A
  • NG_007884.1:g.16679A>T
  • NM_000257.4:c.2846A>TMANE SELECT
  • NP_000248.2:p.Glu949Val
  • LRG_384t1:c.2846A>T
  • LRG_384:g.16679A>T
  • NC_000014.8:g.23893192T>A
  • NM_000257.2:c.2846A>T
  • NM_000257.3:c.2846A>T
  • c.2846A>T
Protein change:
E949V
Links:
dbSNP: rs397516175
NCBI 1000 Genomes Browser:
rs397516175
Molecular consequence:
  • NM_000257.4:c.2846A>T - 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
SCV004849154Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 20, 2019) 		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, SCV004849154.1

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

Description

The c.2846A>T (p.E949V) alteration is located in exon 23 (coding exon 21) of the MYH7 gene. This alteration results from a A to T substitution at nucleotide position 2846, causing the glutamic acid (E) at amino acid position 949 to be replaced by a valine (V). 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: Oct 8, 2024