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NM_001256447.2(BCAP31):c.212G>A (p.Arg71Gln) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 3, 2022
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:
RCV004374157.1

Allele description [Variation Report for NM_001256447.2(BCAP31):c.212G>A (p.Arg71Gln)]

NM_001256447.2(BCAP31):c.212G>A (p.Arg71Gln)

Gene:
BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001256447.2(BCAP31):c.212G>A (p.Arg71Gln)
HGVS:
  • NC_000023.11:g.153715671C>T
  • NG_023231.1:g.14076G>A
  • NM_001139441.1:c.212G>A
  • NM_001139457.1:c.413G>A
  • NM_001139457.2:c.413G>A
  • NM_001256447.2:c.212G>AMANE SELECT
  • NM_005745.8:c.212G>A
  • NP_001132913.1:p.Arg71Gln
  • NP_001132929.1:p.Arg138Gln
  • NP_001243376.1:p.Arg71Gln
  • NP_005736.3:p.Arg71Gln
  • NC_000023.10:g.152981126C>T
  • NR_024450.1:n.669G>A
Protein change:
R138Q
Molecular consequence:
  • NM_001139441.1:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001139457.2:c.413G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256447.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005745.8:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004913307Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004913307.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024