NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Dec 1, 2023
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:: RCV000143798.7

Allele description [Variation Report for NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)]

NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)

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.1993G>T (p.Val665Leu)

HGVS:

NC_000009.12:g.92718652C>A
NG_033908.1:g.51150G>T
NM_001003800.2:c.1993G>TMANE SELECT
NM_015250.4:c.1993G>T
NP_001003800.1:p.Val665Leu
NP_056065.1:p.Val665Leu
NC_000009.11:g.95480934C>A
NM_001003800.1:c.1993G>T

Protein change:

V665L

Links:

dbSNP: rs587777885

NCBI 1000 Genomes Browser:

rs587777885

Molecular consequence:

NM_001003800.2:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_015250.4:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Anisopappus oliverianus voucher Borhidi et al. 86485 tRNA-Leu (trnL) gene, parti...
Anisopappus oliverianus voucher Borhidi et al. 86485 tRNA-Leu (trnL) gene, partial sequence; trnL-trnF intergenic spacer, complete sequence; and tRNA-Phe (trnF) gene, partial sequence; chloroplast
gi|2021357484|gb|MT886573.1|

Nucleotide
protocadherin-20 isoform X1 [Mus musculus]
protocadherin-20 isoform X1 [Mus musculus]
gi|1907100841|ref|XP_036014467.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000188690	Northcott Neuroscience Laboratory, ANZAC Research Institute	no assertion criteria provided	probable-non-pathogenic	germline	not provided
SCV004704209	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Dec 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188690

Northcott Neuroscience Laboratory, ANZAC Research Institute

no assertion criteria provided

probable-non-pathogenic

germline

not provided

SCV004704209

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Dec 1, 2023)

germline

clinical testing

Citation Link

Description

Family R: SCV000188690

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Northcott Neuroscience Laboratory, ANZAC Research Institute, SCV000188690.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Likely benign.

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

From CeGaT Center for Human Genetics Tuebingen, SCV004704209.6

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

Description

BICD2: BP4

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

Last Updated: Sep 29, 2024

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