NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) AND Familial isolated hypoparathyroidism

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000319319.2

Allele description [Variation Report for NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)]

NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)

Gene:
CASR:calcium sensing receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)
HGVS:
  • NC_000003.12:g.122284778G>A
  • NG_009058.1:g.106096G>A
  • NM_000388.4:c.2824G>AMANE SELECT
  • NM_001178065.2:c.2854G>A
  • NP_000379.3:p.Glu942Lys
  • NP_001171536.2:p.Glu952Lys
  • NC_000003.11:g.122003625G>A
  • NM_000388.3:c.2824G>A
Protein change:
E942K
Links:
dbSNP: rs76327999
NCBI 1000 Genomes Browser:
rs76327999
Molecular consequence:
  • NM_000388.4:c.2824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.2854G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial isolated hypoparathyroidism (FIH)
Synonyms:
Familial hypoparathyroidism
Identifiers:
MONDO: MONDO:0016390; MedGen: C1832648; Orphanet: 2238; OMIM: PS146200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000440127Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.

Park SY, Eom YS, Choi B, Yi HS, Yu SH, Lee K, Jin HS, Chung YS, Jung TS, Lee S.

J Korean Med Sci. 2013 Oct;28(10):1489-95. doi: 10.3346/jkms.2013.28.10.1489. Epub 2013 Sep 25.

PubMed [citation]
PMID:
24133354
PMCID:
PMC3792604

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000440127.3

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Nov 27, 2021

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