NM_000257.4(MYH7):c.758G>T (p.Gly253Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 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:
RCV000158763.2

Allele description [Variation Report for NM_000257.4(MYH7):c.758G>T (p.Gly253Val)]

NM_000257.4(MYH7):c.758G>T (p.Gly253Val)

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.758G>T (p.Gly253Val)
Other names:
p.G253V:GGG>GTG
HGVS:
  • NC_000014.9:g.23431456C>A
  • NG_007884.1:g.9206G>T
  • NM_000257.4:c.758G>TMANE SELECT
  • NP_000248.2:p.Gly253Val
  • LRG_384t1:c.758G>T
  • LRG_384:g.9206G>T
  • NC_000014.8:g.23900665C>A
  • NM_000257.2:c.758G>T
Protein change:
G253V
Links:
dbSNP: rs730880853
NCBI 1000 Genomes Browser:
rs730880853
Molecular consequence:
  • NM_000257.4:c.758G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208698GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 11, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208698.10

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024