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NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 6, 2016
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:
RCV000601502.4

Allele description [Variation Report for NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)]

NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)

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.5296G>C (p.Ala1766Pro)
HGVS:
  • NC_000003.12:g.53801313G>C
  • NG_032999.1:g.311265G>C
  • NM_000720.4:c.5356G>C
  • NM_001128839.3:c.5251G>C
  • NM_001128840.3:c.5296G>CMANE SELECT
  • NP_000711.1:p.Ala1786Pro
  • NP_001122311.1:p.Ala1751Pro
  • NP_001122312.1:p.Ala1766Pro
  • NC_000003.11:g.53835340G>C
  • NM_000720.2:c.5356G>C
  • NM_000720.3:c.5356G>C
Protein change:
A1751P
Links:
dbSNP: rs199874790
NCBI 1000 Genomes Browser:
rs199874790
Molecular consequence:
  • NM_000720.4:c.5356G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128839.3:c.5251G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128840.3:c.5296G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000711564Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 6, 2016) 		germlineclinical testing

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

Help

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, SCV000711564.1

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

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Ala1786Pro va riant in CACNA1D has not been previously reported in individuals with hearing lo ss and has been identified in 21/66696 European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199874790). Altho ugh this variant has been seen in the general population, its frequency is not h igh enough to rule out a pathogenic role. Computational prediction tools and con servation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Ala1786Pro variant is uncertain, these data suggest that it is more likely to be benign.

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

Last Updated: Oct 8, 2024