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NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 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:
RCV000035587.7

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)]

NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)

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.3413G>C (p.Arg1138Pro)
Other names:
p.R1138P:CGC>CCC
HGVS:
  • NC_000011.10:g.47332891C>G
  • NG_007667.1:g.24812G>C
  • NM_000256.3:c.3413G>CMANE SELECT
  • NP_000247.2:p.Arg1138Pro
  • LRG_386t1:c.3413G>C
  • LRG_386:g.24812G>C
  • LRG_386p1:p.Arg1138Pro
  • NC_000011.9:g.47354442C>G
  • c.3413G>C
Protein change:
R1138P
Links:
dbSNP: rs187705120
NCBI 1000 Genomes Browser:
rs187705120
Molecular consequence:
  • NM_000256.3:c.3413G>C - 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
SCV000059238Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Feb 11, 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, Mass General Brigham Personalized Medicine, SCV000059238.5

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

Description

The Arg1138Pro variant in MYBPC3 has not been reported in the literature nor pre viously identified by our laboratory. The frequency of this variant in large Eur opean American and African American populations cannot be determined from the NH LBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) because coverag e at this position was insufficient or unavailable. Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) sug gest that this variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. At this time, additional information is needed to fully assess the clinical significance of this variant.

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

Last Updated: May 7, 2024