NM_001003800.2(BICD2):c.1196G>A (p.Arg399His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 5, 2020
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:: RCV002341447.2

Allele description [Variation Report for NM_001003800.2(BICD2):c.1196G>A (p.Arg399His)]

NM_001003800.2(BICD2):c.1196G>A (p.Arg399His)

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.1196G>A (p.Arg399His)

HGVS:

NC_000009.12:g.92719449C>T
NG_033908.1:g.50353G>A
NM_001003800.2:c.1196G>AMANE SELECT
NM_015250.4:c.1196G>A
NP_001003800.1:p.Arg399His
NP_056065.1:p.Arg399His
NC_000009.11:g.95481731C>T
NM_001003800.1:c.1196G>A

Protein change:

R399H

Links:

dbSNP: rs372251238

NCBI 1000 Genomes Browser:

rs372251238

Molecular consequence:

NM_001003800.2:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015250.4:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002642006	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 5, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002642006

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 5, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis.

Huang X, Fan D.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):454-456. doi: 10.1080/21678421.2017.1304557. Epub 2017 Mar 23. No abstract available.

PubMed [citation]

PMID:: 28335620

Details of each submission

From Ambry Genetics, SCV002642006.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.R399H variant (also known as c.1196G>A), located in coding exon 5 of the BICD2 gene, results from a G to A substitution at nucleotide position 1196. The arginine at codon 399 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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