NM_000257.3(MYH7):c.3337G>A (p.Ala1113Thr) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030316.1

Allele description [Variation Report for NM_000257.3(MYH7):c.3337G>A (p.Ala1113Thr)]

NM_000257.3(MYH7):c.3337G>A (p.Ala1113Thr)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.3(MYH7):c.3337G>A (p.Ala1113Thr)
HGVS:
  • NC_000014.9:g.23420234C>T
  • NG_007884.1:g.20428G>A
  • NM_000257.3:c.3337G>A
  • NP_000248.2:p.Ala1113Thr
  • LRG_384t1:c.3337G>A
  • LRG_384:g.20428G>A
  • LRG_384p1:p.Ala1113Thr
  • NC_000014.8:g.23889443C>T
  • NM_000257.2:c.3337G>A
  • p.A1113T:GCA>ACA
Protein change:
A1113T
Links:
dbSNP: 193922388
NCBI 1000 Genomes Browser:
rs193922388
Molecular consequence:
  • NM_000257.3:c.3337G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hypertrophic cardiomyopathy
Identifiers:
MedGen: C0949658

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052983LabCorpcriteria provided, single submitter
(LabCorp Variant Classification Summary - May 2015)
likely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Details of each submission

From LabCorp, SCV000052983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided
3not providednot providednot providednot providedclinical testingnot provided
4not providednot providednot providednot providedclinical testingnot provided
5not providednot providednot providednot providedclinical testingnot provided
6not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3
4germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 4
5germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 5
6germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 6

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteMYH7:c.3337-3dupC1
3SingleHeterozygoteMYH7:c.3337-3dupC1
4SingleHeterozygoteMYBPC3:c.506-12delC, MYH7:c.5106G>A, MYH7:c.1128C>T, MYH7:c.1062C>T, MYH7:c.2967T>C, MYH7:c.189C>T, MYH7:c.732C>T, MYH7:c.1988G>A, TNNI3:c.537G>A, TNNI3:c.373-10T>G, TNNI3:c.25-8T>A, TNNT2:c.318C>T, TNNT2:c.53-11_53-7delCTTCT, MYL2:c.353+46dupC, MYL2:c.353+20delG, TPM1:c.486T>C, MYBPC3:c.506-12delC, MYH7:c.5106G>A, MYH7:c.3337-3dupC, MYH7:c.1128C>T, MYH7:c.1062C>T, MYH7:c.2967T>C, MYH7:c.189C>T, MYH7:c.732C>T, MYH7:c.1988G>A, TNNT2:c.318C>T, TNNT2:c.53-11_53-7delCTTCT, MYL2:c.353+46dupC, MYL2:c.353+20delG, TNNI3:c.537G>A, TNNI3:c.373-10T>G, TNNI3:c.25-8T>A, TPM1:c.486T>C1
5SingleHeterozygoteMYH7:c.3337-3dupC1
6SingleHeterozygoteMYH7:c.3337-3dupC1

Last Updated: Aug 21, 2016