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NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 23, 2016
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:
RCV000431086.1

Allele description [Variation Report for NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys)]

NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys)

Gene:
BICD2:BICD cargo adaptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys)
HGVS:
  • NC_000009.12:g.92719258G>A
  • NG_033908.1:g.50544C>T
  • NM_001003800.2:c.1387C>TMANE SELECT
  • NM_015250.4:c.1387C>T
  • NP_001003800.1:p.Arg463Cys
  • NP_056065.1:p.Arg463Cys
  • NC_000009.11:g.95481540G>A
  • NM_001003800.1:c.1387C>T
Protein change:
R463C
Links:
dbSNP: rs78319441
NCBI 1000 Genomes Browser:
rs78319441
Molecular consequence:
  • NM_001003800.2:c.1387C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015250.4:c.1387C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000533948GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Nov 23, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000533948.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Oct 13, 2024