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NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 2013
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:
RCV000172026.4

Allele description [Variation Report for NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)]

NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)

Gene:
MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)
HGVS:
  • NC_000014.9:g.23389046C>T
  • NG_023444.1:g.24232G>A
  • NM_002471.4:c.3988G>AMANE SELECT
  • NP_002462.2:p.Ala1330Thr
  • NP_002462.2:p.Ala1330Thr
  • LRG_389t1:c.3988G>A
  • LRG_389:g.24232G>A
  • LRG_389p1:p.Ala1330Thr
  • NC_000014.8:g.23858255C>T
  • NM_002471.3:c.3988G>A
Protein change:
A1330T
Links:
dbSNP: rs757840030
NCBI 1000 Genomes Browser:
rs757840030
Molecular consequence:
  • NM_002471.4:c.3988G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000054810Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))		Uncertain significance
(Jun 24, 2013) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000054810.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024