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NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 27, 2017
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:
RCV000483478.1

Allele description [Variation Report for NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg)]

NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg)

Gene:
CACNB2:calcium voltage-gated channel auxiliary subunit beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p12.31
Genomic location:
Preferred name:
NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg)
HGVS:
  • NC_000010.11:g.18536192C>G
  • NG_016195.1:g.400516C>G
  • NM_000724.4:c.1133C>G
  • NM_001167945.2:c.1100C>G
  • NM_001330060.2:c.1019C>G
  • NM_201570.3:c.1154C>G
  • NM_201571.4:c.1214C>G
  • NM_201572.4:c.1142C>G
  • NM_201590.3:c.1136C>G
  • NM_201593.3:c.1184C>G
  • NM_201596.3:c.1298C>GMANE SELECT
  • NM_201597.3:c.1226C>G
  • NP_000715.2:p.Pro378Arg
  • NP_001161417.1:p.Pro367Arg
  • NP_001316989.1:p.Pro340Arg
  • NP_963864.1:p.Pro385Arg
  • NP_963865.2:p.Pro405Arg
  • NP_963866.2:p.Pro381Arg
  • NP_963884.2:p.Pro379Arg
  • NP_963887.2:p.Pro395Arg
  • NP_963890.2:p.Pro433Arg
  • NP_963891.1:p.Pro409Arg
  • LRG_381t1:c.1298C>G
  • LRG_381t2:c.1136C>G
  • LRG_381:g.400516C>G
  • LRG_381p1:p.Pro433Arg
  • LRG_381p2:p.Pro379Arg
  • NC_000010.10:g.18825121C>G
  • NM_201590.2:c.1136C>G
Protein change:
P340R
Links:
dbSNP: rs200764884
NCBI 1000 Genomes Browser:
rs200764884
Molecular consequence:
  • NM_000724.4:c.1133C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167945.2:c.1100C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330060.2:c.1019C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201570.3:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201571.4:c.1214C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201572.4:c.1142C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201590.3:c.1136C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201593.3:c.1184C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201596.3:c.1298C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201597.3:c.1226C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000573463GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Feb 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000573463.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The P379R variant of uncertain significance in the CACNB2 gene has not been published as pathogenic or benign to our knowledge. This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution also occurs at a position that is conserved across species. Furthermore, in silico analysis predicts P379R is probably damaging to the protein structure/function. Nevertheless, the Exome aggregation Consortium has observed P379R in approximately 0.17% of alleles from individuals of Finnish background, indicating it may be a rare benign variant in this population.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Sep 29, 2024