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NM_000257.4(MYH7):c.1266T>C (p.Tyr422=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 27, 2023
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:
RCV003298325.2

Allele description [Variation Report for NM_000257.4(MYH7):c.1266T>C (p.Tyr422=)]

NM_000257.4(MYH7):c.1266T>C (p.Tyr422=)

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.1266T>C (p.Tyr422=)
HGVS:
  • NC_000014.9:g.23429096A>G
  • NG_007884.1:g.11566T>C
  • NM_000257.4:c.1266T>CMANE SELECT
  • NP_000248.2:p.Tyr422=
  • LRG_384t1:c.1266T>C
  • LRG_384:g.11566T>C
  • NC_000014.8:g.23898305A>G
  • NM_000257.2:c.1266T>C
  • NM_000257.3:c.1266T>C
Links:
dbSNP: rs141519877
NCBI 1000 Genomes Browser:
rs141519877
Molecular consequence:
  • NM_000257.4:c.1266T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV003993388Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 27, 2023) 		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, SCV003993388.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024