NM_000388.4(CASR):c.1285C>T (p.His429Tyr) AND Inborn genetic diseases

Clinical significance:Benign (Last evaluated: Apr 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001010757.1

Allele description [Variation Report for NM_000388.4(CASR):c.1285C>T (p.His429Tyr)]

NM_000388.4(CASR):c.1285C>T (p.His429Tyr)

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.1285C>T (p.His429Tyr)
HGVS:
  • NC_000003.12:g.122262320C>T
  • NG_009058.1:g.83638C>T
  • NM_000388.4:c.1285C>TMANE SELECT
  • NM_001178065.2:c.1285C>T
  • NP_000379.3:p.His429Tyr
  • NP_001171536.2:p.His429Tyr
  • NC_000003.11:g.121981167C>T
  • NM_000388.3:c.1285C>T
  • NM_001178065.1:c.1285C>T
Protein change:
H429Y
Links:
dbSNP: rs142818334
NCBI 1000 Genomes Browser:
rs142818334
Molecular consequence:
  • NM_000388.4:c.1285C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178065.2:c.1285C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001170997Ambry Geneticscriteria provided, single submitter
Benign
(Apr 24, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001170997.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 6, 2021

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