NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035367.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)]

NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)
HGVS:
  • NC_000011.10:g.47346258C>T
  • NG_007667.1:g.11445G>A
  • NM_000256.3:c.1039G>AMANE SELECT
  • NP_000247.2:p.Gly347Ser
  • LRG_386t1:c.1039G>A
  • LRG_386:g.11445G>A
  • LRG_386p1:p.Gly347Ser
  • NC_000011.9:g.47367809C>T
  • c.1039G>A
Protein change:
G347S
Links:
dbSNP: rs397515884
NCBI 1000 Genomes Browser:
rs397515884
Molecular consequence:
  • NM_000256.3:c.1039G>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
SCV000059015Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Aug 2, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not 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

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000059015.6

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

Description

The p.Gly347Ser variant in MYBPC3 has been identified in 1 individual with DCM (LMM data) and 3/112736 European chromosomes by gnomAD (https://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.

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

Last Updated: Oct 6, 2021

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