NM_001003800.2(BICD2):c.1341C>T (p.Gly447=) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 13, 2019
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:: RCV001223426.8

Allele description [Variation Report for NM_001003800.2(BICD2):c.1341C>T (p.Gly447=)]

NM_001003800.2(BICD2):c.1341C>T (p.Gly447=)

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.1341C>T (p.Gly447=)

HGVS:

NC_000009.12:g.92719304G>A
NG_033908.1:g.50498C>T
NM_001003800.2:c.1341C>TMANE SELECT
NM_015250.4:c.1341C>T
NP_001003800.1:p.Gly447=
NP_056065.1:p.Gly447=
NC_000009.11:g.95481586G>A
NM_001003800.1:c.1341C>T

Links:

dbSNP: rs750241183

NCBI 1000 Genomes Browser:

rs750241183

Molecular consequence:

NM_001003800.2:c.1341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_015250.4:c.1341C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (SMALED2A)
Synonyms:: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
Identifiers:: MONDO: MONDO:0014121; MedGen: C4747715; Orphanet: 363447; Orphanet: 363454; OMIM: 615290

Recent activity

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Homo sapiens C-C motif chemokine ligand 20 (CCL20), transcript variant 2, mRNA
Homo sapiens C-C motif chemokine ligand 20 (CCL20), transcript variant 2, mRNA
gi|1676441553|ref|NM_001130046.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001395575	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 13, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001395575

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 13, 2019)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001395575.5

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BICD2-related conditions. This variant is present in population databases (rs750241183, ExAC 0.003%). This sequence change affects codon 447 of the BICD2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BICD2 protein.

#	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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