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NM_000257.4(MYH7):c.2923-6C>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 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:
RCV000522378.4

Allele description [Variation Report for NM_000257.4(MYH7):c.2923-6C>A]

NM_000257.4(MYH7):c.2923-6C>A

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.2923-6C>A
HGVS:
  • NC_000014.9:g.23423729G>T
  • NG_007884.1:g.16933C>A
  • NM_000257.4:c.2923-6C>AMANE SELECT
  • LRG_384t1:c.2923-6C>A
  • LRG_384:g.16933C>A
  • NC_000014.8:g.23892938G>T
  • NM_000257.2:c.2923-6C>A
  • NM_000257.3:c.2923-6C>A
Links:
dbSNP: rs587781082
NCBI 1000 Genomes Browser:
rs587781082
Molecular consequence:
  • NM_000257.4:c.2923-6C>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000616800GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 3, 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, SCV000616800.4

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Although other splice site variants in the MYH7 gene have been reported in HGMD in association with cardiomyopathy, the vast majority of pathogenic variants in MYH7 are missense changes (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing

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

Last Updated: Sep 29, 2024