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NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=) AND Aldosterone-producing adenoma with seizures and neurological abnormalities

Germline classification:
Likely 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:
RCV003316191.1

Allele description [Variation Report for NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=)]

NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=)

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.5940G>C (p.Ser1980=)
HGVS:
  • NC_000003.12:g.53810046G>C
  • NG_032999.1:g.319998G>C
  • NM_000720.4:c.6000G>C
  • NM_001128839.3:c.5868G>C
  • NM_001128840.3:c.5940G>CMANE SELECT
  • NP_000711.1:p.Ser2000=
  • NP_001122311.1:p.Ser1956=
  • NP_001122312.1:p.Ser1980=
  • NC_000003.11:g.53844073G>C
  • NM_000720.2:c.6000G>C
  • NM_000720.3:c.6000G>C
  • p.Ser2000Ser
Links:
dbSNP: rs767458712
NCBI 1000 Genomes Browser:
rs767458712
Molecular consequence:
  • NM_000720.4:c.6000G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128839.3:c.5868G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128840.3:c.5940G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004016962KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely 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, SCV004016962.1

#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: Sep 29, 2024