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NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile) AND Aldosterone-producing adenoma with seizures and neurological abnormalities

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 2023
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:
RCV003316176.1

Allele description [Variation Report for NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile)]

NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile)

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.5255C>T (p.Thr1752Ile)
HGVS:
  • NC_000003.12:g.53801272C>T
  • NG_032999.1:g.311224C>T
  • NM_000720.3:c.5315C>T
  • NM_000720.4:c.5315C>T
  • NM_001128839.3:c.5210C>T
  • NM_001128840.3:c.5255C>TMANE SELECT
  • NP_000711.1:p.Thr1772Ile
  • NP_001122311.1:p.Thr1737Ile
  • NP_001122312.1:p.Thr1752Ile
  • NC_000003.11:g.53835299C>T
  • NM_000720.2:c.5315C>T
Protein change:
T1737I
Links:
dbSNP: rs201147414
NCBI 1000 Genomes Browser:
rs201147414
Molecular consequence:
  • NM_000720.4:c.5315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128839.3:c.5210C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128840.3:c.5255C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Aldosterone-producing adenoma with seizures and neurological abnormalities
Synonyms:
Primary aldosteronism, seizures, and neurologic abnormalities
Identifiers:
MONDO: MONDO:0014200; MedGen: C3809609; Orphanet: 369929; OMIM: 615474

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004016960KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024