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NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 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:
RCV001244934.8

Allele description [Variation Report for NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)]

NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)

Gene:
CACNA1H:calcium voltage-gated channel subunit alpha1 H [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)
HGVS:
  • NC_000016.10:g.1204216_1204293delinsAGCAGA
  • NG_012647.1:g.55976_56053delinsAGCAGA
  • NM_001005407.2:c.2209_2286delinsAGCAGA
  • NM_021098.3:c.2209_2286delinsAGCAGAMANE SELECT
  • NP_001005407.1:p.Gly737_Arg761delinsSer
  • NP_066921.2:p.Gly737_Arg761delinsSer
  • NC_000016.9:g.1254216_1254293delinsAGCAGA
  • NM_021098.2:c.2209_2286del78insAGCAGA
  • NM_021098.2:c.2209_2286delinsAGCAGA
Links:
dbSNP: rs1555513044
NCBI 1000 Genomes Browser:
rs1555513044
Molecular consequence:
  • NM_001005407.2:c.2209_2286delinsAGCAGA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_021098.3:c.2209_2286delinsAGCAGA - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:
Idiopathic generalized epilepsy
Synonyms:
EIG; Generalised epilepsy
Identifiers:
MONDO: MONDO:0005579; MedGen: C0270850; OMIM: 600669; OMIM: PS600669
Name:
Hyperaldosteronism, familial, type IV (HALD4)
Synonyms:
FH IV; ALDOSTERONISM, PRIMARY, AND HYPERTENSION
Identifiers:
MONDO: MONDO:0014875; MedGen: C4310756; OMIM: 617027

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001418190Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Jul 20, 2023)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001418190.5

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

Description

This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 423060). This variant is not present in population databases (gnomAD no frequency). This variant, c.2209_2286delinsAGCAGA, is a complex sequence change that results in the deletion of 25 and insertion of 1 amino acid(s) in the CACNA1H protein (p.Gly737_Arg761delinsSer). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024