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NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 2018
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:
RCV000825876.4

Allele description [Variation Report for NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr)]

NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr)

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.5165G>C (p.Ser1722Thr)
HGVS:
  • NC_000003.12:g.53801182G>C
  • NG_032999.1:g.311134G>C
  • NM_000720.4:c.5225G>C
  • NM_001128839.3:c.5120G>C
  • NM_001128840.3:c.5165G>CMANE SELECT
  • NP_000711.1:p.Ser1742Thr
  • NP_001122311.1:p.Ser1707Thr
  • NP_001122312.1:p.Ser1722Thr
  • NC_000003.11:g.53835209G>C
  • NM_000720.2:c.5225G>C
  • p.Ser1742Thr
Protein change:
S1707T
Links:
dbSNP: rs759409255
NCBI 1000 Genomes Browser:
rs759409255
Molecular consequence:
  • NM_000720.4:c.5225G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128839.3:c.5120G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128840.3:c.5165G>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
SCV000967361Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 18, 2018) 		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, SCV000967361.1

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

Description

The p.Ser1742Thr variant in CACNA1D has not been reported in individuals with he aring loss, but was identified in 0.02% (6/24024) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7 59409255). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Ser1742Thr variant is uncertain. ACMG/AMP Criteria app lied: PM2_Supporting.

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

Last Updated: Sep 29, 2024