NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 23, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000156014.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp)]

NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp)

Gene:
MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp)
HGVS:
  • NC_000011.10:g.47332122G>T
  • NG_007667.1:g.25581C>A
  • NM_000256.3:c.3764C>A
  • NP_000247.2:p.Ala1255Asp
  • LRG_386t1:c.3764C>A
  • LRG_386:g.25581C>A
  • LRG_386p1:p.Ala1255Asp
  • NC_000011.9:g.47353673G>T
Protein change:
A1255D
Links:
dbSNP: rs727504722
NCBI 1000 Genomes Browser:
rs727504722
Molecular consequence:
  • NM_000256.3:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000205726Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Aug 23, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000205726.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Ala1255Asp variant in MYBPC3 has not been reported in individuals with cardiomyopathy and data from large population studies are insufficient to assess the frequency of this variant. Computational analyses (biochemical amino acid properties, homology, PolyPhen2, SIFT, AlignGVGD) suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the Ala1255Asp variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 13, 2018