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NM_000257.4(MYH7):c.3144G>A (p.Leu1048=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 25, 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:
RCV004523020.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3144G>A (p.Leu1048=)]

NM_000257.4(MYH7):c.3144G>A (p.Leu1048=)

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.3144G>A (p.Leu1048=)
HGVS:
  • NC_000014.9:g.23422281C>T
  • NG_007884.1:g.18381G>A
  • NM_000257.4:c.3144G>AMANE SELECT
  • NM_001407004.1:c.3144G>A
  • NP_000248.2:p.Leu1048=
  • NP_000248.2:p.Leu1048=
  • NP_001393933.1:p.Leu1048=
  • LRG_384t1:c.3144G>A
  • LRG_384:g.18381G>A
  • LRG_384p1:p.Leu1048=
  • NC_000014.8:g.23891490C>T
  • NM_000257.2:c.3144G>A
Molecular consequence:
  • NM_000257.4:c.3144G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407004.1:c.3144G>A - 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
SCV005033849Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 25, 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, SCV005033849.1

#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: May 7, 2024