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NM_000257.4(MYH7):c.3853+1G>A AND Sudden cardiac death

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 2015
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:
RCV000208113.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3853+1G>A]

NM_000257.4(MYH7):c.3853+1G>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.3853+1G>A
HGVS:
  • NC_000014.9:g.23419482C>T
  • NG_007884.1:g.21180G>A
  • NM_000257.4:c.3853+1G>AMANE SELECT
  • NM_001407004.1:c.3853+1G>A
  • LRG_384t1:c.3853+1G>A
  • LRG_384:g.21180G>A
  • NC_000014.8:g.23888691C>T
  • NM_000257.2:c.3853+1G>A
  • NM_000257.3:c.3853+1G>A
Links:
dbSNP: rs202031879
NCBI 1000 Genomes Browser:
rs202031879
Molecular consequence:
  • NM_000257.4:c.3853+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407004.1:c.3853+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Sudden cardiac death (SCD)
Synonyms:
Sudden adult death syndrome
Identifiers:
EFO: EFO_0004278; MeSH: D016757; MedGen: C0085298; Human Phenotype Ontology: HP:0001645

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264103Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Uncertain significance
(Oct 29, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000264103.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024