NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys) AND Autism spectrum disorder

Clinical significance:Uncertain significance (Last evaluated: May 28, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000656707.1

Allele description [Variation Report for NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys)]

NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys)

Gene:
CACNB2:calcium voltage-gated channel auxiliary subunit beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p12.33
Genomic location:
Preferred name:
NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys)
HGVS:
  • NC_000010.11:g.18150970C>T
  • NG_016195.1:g.15294C>T
  • NM_001167945.2:c.124C>T
  • NM_201571.4:c.124C>T
  • NM_201572.4:c.124C>T
  • NM_201593.3:c.208C>T
  • NM_201596.3:c.208C>TMANE SELECT
  • NM_201597.3:c.208C>T
  • NP_001161417.1:p.Arg42Cys
  • NP_963865.2:p.Arg42Cys
  • NP_963866.2:p.Arg42Cys
  • NP_963887.2:p.Arg70Cys
  • NP_963890.2:p.Arg70Cys
  • NP_963891.1:p.Arg70Cys
  • LRG_381t1:c.208C>T
  • LRG_381:g.15294C>T
  • LRG_381p1:p.Arg70Cys
  • NC_000010.10:g.18439899C>T
  • NM_201597.2:c.208C>T
  • g.18439899C>T
Protein change:
R42C
Links:
dbSNP: rs760538597
NCBI 1000 Genomes Browser:
rs760538597
Molecular consequence:
  • NM_001167945.2:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201571.4:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201572.4:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201593.3:c.208C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201596.3:c.208C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201597.3:c.208C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Uncertain function
Observations:
1

Condition(s)

Name:
Autism spectrum disorder
Synonyms:
Autism spectrum disorders; Autism susceptibility
Identifiers:
MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586; OMIM: PS209850

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000777892Medical Genetics Lab, Policlinico S. Orsola.Malpighicriteria provided, single submitter
Uncertain significance
(May 28, 2018)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Medical Genetics Lab, Policlinico S. Orsola.Malpighi, SCV000777892.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedclinical testingnot provided

Description

The p.Arg70Cys CACNB2 variant is extremely rare in the general population and it is homozygous in this patient. No other plausible variants in candidate genes were identified. It is predicted "possibly damaging" bay PolyPhen and "deletrious" by SIFT. CACNB2 variants can cause Brugada syndrome but were also identified as possibly predisposing to Autism Spectrum Disorder.

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

Last Updated: Oct 2, 2021

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