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NM_000388.4(CASR):c.748G>A (p.Glu250Lys) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 10, 2018
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:
RCV000233511.4

Allele description

NM_000388.4(CASR):c.748G>A (p.Glu250Lys)

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.748G>A (p.Glu250Lys)
HGVS:
  • NC_000003.12:g.122261783G>A
  • NG_009058.1:g.83101G>A
  • NM_000388.4:c.748G>A
  • NM_001178065.2:c.748G>A
  • NP_000379.3:p.Glu250Lys
  • NP_001171536.2:p.Glu250Lys
  • NC_000003.11:g.121980630G>A
  • NM_000388.3:c.748G>A
Protein change:
E250K
Links:
dbSNP: rs62269092
NCBI 1000 Genomes Browser:
rs62269092
Molecular consequence:
  • NM_000388.4:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypocalciuric hypercalcemia, familial, type 1 (HHC1)
Synonyms:
Familial benign hypercalcemia; HHC
Identifiers:
MedGen: C0342637; Orphanet: 405; Orphanet: 93372; OMIM: 145980
Name:
Hypocalcemia, autosomal dominant 1 (HYPOC1)
Synonyms:
HYPERCALCIURIC HYPOCALCEMIA; HYPOCALCEMIA, FAMILIAL
Identifiers:
MedGen: C0342345; OMIM: 601198

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000284800Invitae
criteria provided, single submitter

(Nykamp K et al. (Genet Med 2017))
Likely benign
(Jan 10, 2018)
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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000284800.4

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

Last Updated: Nov 2, 2019