NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) AND not specified

Clinical significance:Benign (Last evaluated: Nov 24, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000213122.1

Allele description [Variation Report for NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys)]

NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys)

Gene:
CACNA1D:calcium voltage-gated channel subunit alpha1 D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.1
Genomic location:
Preferred name:
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys)
HGVS:
  • NC_000003.12:g.53811357G>A
  • NG_032999.1:g.321309G>A
  • NM_000720.4:c.6497G>A
  • NM_001128839.3:c.6365G>A
  • NM_001128840.3:c.6437G>AMANE SELECT
  • NP_000711.1:p.Arg2166Lys
  • NP_001122311.1:p.Arg2122Lys
  • NP_001122312.1:p.Arg2146Lys
  • NC_000003.11:g.53845384G>A
  • NM_000720.2:c.6497G>A
  • NM_000720.3:c.6497G>A
Protein change:
R2122K
Links:
dbSNP: rs150838215
NCBI 1000 Genomes Browser:
rs150838215
Molecular consequence:
  • NM_000720.4:c.6497G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128839.3:c.6365G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128840.3:c.6437G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000268826Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Nov 24, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000268826.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Arg2166Lys in exon 49 of CACNA1D: This variant is not expected to have clinical significance because it has been identified in 0.5% (22/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs150838215).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Sep 6, 2021

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