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NM_000257.4(MYH7):c.737A>G (p.Lys246Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2022
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:
RCV000158759.4

Allele description [Variation Report for NM_000257.4(MYH7):c.737A>G (p.Lys246Arg)]

NM_000257.4(MYH7):c.737A>G (p.Lys246Arg)

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.737A>G (p.Lys246Arg)
Other names:
p.K246R:AAA>AGA
HGVS:
  • NC_000014.9:g.23431477T>C
  • NG_007884.1:g.9185A>G
  • NM_000257.4:c.737A>GMANE SELECT
  • NP_000248.2:p.Lys246Arg
  • LRG_384t1:c.737A>G
  • LRG_384:g.9185A>G
  • NC_000014.8:g.23900686T>C
  • NM_000257.2:c.737A>G
  • NM_000257.3:c.737A>G
Protein change:
K246R
Links:
dbSNP: rs730880851
NCBI 1000 Genomes Browser:
rs730880851
Molecular consequence:
  • NM_000257.4:c.737A>G - 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
SCV000208694GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jun 21, 2022) 		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, SCV000208694.13

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27532257, 29300372)

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

Last Updated: Sep 29, 2024