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NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 27, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000158720.8

Allele description

NM_000257.4(MYH7):c.29G>C (p.Gly10Ala)

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.29G>C (p.Gly10Ala)
Other names:
p.G10A:GGG>GCG; NM_000257.4(MYH7):c.29G>C; p.Gly10Ala
HGVS:
  • NC_000014.9:g.23433704C>G
  • NG_007884.1:g.6958G>C
  • NM_000257.4:c.29G>CMANE SELECT
  • NP_000248.2:p.Gly10Ala
  • LRG_384t1:c.29G>C
  • LRG_384:g.6958G>C
  • NC_000014.8:g.23902913C>G
  • NM_000257.2:c.29G>C
  • NM_000257.3:c.29G>C
Protein change:
G10A
Links:
dbSNP: rs730880826
NCBI 1000 Genomes Browser:
rs730880826
Molecular consequence:
  • NM_000257.4:c.29G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208655GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 27, 2023) 		germlineclinical testing

Citation Link,

SCV000927635Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Uncertain significance
(Apr 18, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208655.12

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

Description

Reported in association with cardiomyopathy (Perkins et al., 2018; Hou et al., 2020; Stava et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31980526, 35653365, 29555771)

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

From Blueprint Genetics, SCV000927635.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024