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NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) AND Autosomal dominant hypocalcemia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 7, 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:
RCV001253113.1

Allele description [Variation Report for NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)]

NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)

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.386G>A (p.Cys129Tyr)
HGVS:
  • NC_000003.12:g.122257281G>A
  • NG_009058.2:g.78614G>A
  • NM_000388.4:c.386G>AMANE SELECT
  • NM_001178065.2:c.386G>A
  • NP_000379.3:p.Cys129Tyr
  • NP_001171536.2:p.Cys129Tyr
  • NC_000003.11:g.121976128G>A
  • NC_000003.11:g.121976128G>A
  • NG_009058.1:g.78599G>A
  • NM_001178065.1:c.386G>A
Protein change:
C129Y
Links:
dbSNP: rs2074565392
NCBI 1000 Genomes Browser:
rs2074565392
Molecular consequence:
  • NM_000388.4:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV001428648Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 7, 2018) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001428648.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant was identified as de novo (maternity and paternity confirmed).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024