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NM_000388.4(CASR):c.2043G>T (p.Gln681His) AND Autosomal dominant hypocalcemia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1996
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000008821.3

Allele description [Variation Report for NM_000388.4(CASR):c.2043G>T (p.Gln681His)]

NM_000388.4(CASR):c.2043G>T (p.Gln681His)

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.2043G>T (p.Gln681His)
Other names:
E681H
HGVS:
  • NC_000003.12:g.122283997G>T
  • NG_009058.1:g.105315G>T
  • NM_000388.4:c.2043G>TMANE SELECT
  • NM_001178065.2:c.2073G>T
  • NP_000379.3:p.Gln681His
  • NP_001171536.2:p.Gln691His
  • NC_000003.11:g.122002844G>T
Protein change:
Q681H; GLU681HIS
Links:
OMIM: 601199.0009; dbSNP: rs121909261
NCBI 1000 Genomes Browser:
rs121909261
Molecular consequence:
  • NM_000388.4:c.2043G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.2073G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant hypocalcemia 1 (HYPOC1)
Synonyms:
HYPOCALCEMIA, FAMILIAL
Identifiers:
MONDO: MONDO:0011013; MedGen: C0342345; OMIM: 601198

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029031OMIM
no assertion criteria provided
Pathogenic
(May 1, 1996) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.

Baron J, Winer KK, Yanovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB Jr.

Hum Mol Genet. 1996 May;5(5):601-6.

PubMed [citation]
PMID:
8733126

Details of each submission

From OMIM, SCV000029031.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 5 affected members of a 3-generation family (family N) with autosomal dominant hypocalcemia (HYPOC1; 601198), Baron et al. (1996) identified a heterozygous 2043G-T transversion in the CASR gene that resulted in a glu681-to-his (Q681H) substitution. Affected members of family N had low serum calcium concentrations, elevated serum phosphate concentrations, and low serum levels of parathyroid hormone; most presented in childhood with seizures or tetany.

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

Last Updated: Aug 5, 2023