NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 6, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000049278.4

Allele description [Variation Report for NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)]

NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)

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.1523A>C (p.Lys508Thr)

HGVS:

NC_000009.12:g.92719122T>G
NG_033908.1:g.50680A>C
NM_001003800.1:c.1523A>C
NM_001003800.2:c.1523A>CMANE SELECT
NM_015250.4:c.1523A>C
NP_001003800.1:p.Lys508Thr
NP_056065.1:p.Lys508Thr
NC_000009.11:g.95481404T>G
NM_015250.3:c.1523A>C
Q8TD16:p.Lys508Thr

Protein change:

K508T; LYS508THR

Links:

UniProtKB: Q8TD16#VAR_070116; OMIM: 609797.0006; dbSNP: rs398123031

NCBI 1000 Genomes Browser:

rs398123031

Molecular consequence:

NM_001003800.2:c.1523A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015250.4:c.1523A>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000077535	OMIM	no assertion criteria provided	Pathogenic (Jun 6, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000077535

OMIM

no assertion criteria provided

Pathogenic
(Jun 6, 2013)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, et al.

Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9.

PubMed [citation]

PMID:: 23664120
PMCID:: PMC3675232

Details of each submission

From OMIM, SCV000077535.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of a German family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2A (SMALED2A; 615290), and upper motor neuron features, Oates et al. (2013) identified a heterozygous c.1523A-C transversion in the BICD2 gene, resulting in a lys508-to-thr (K508T) substitution. The patients in this family did not develop features until adulthood (range, 20-70 years) and showed features more consistent with hereditary spastic paraplegia, including lower limb spasticity and hyperreflexia. However, some patients had mild muscle weakness and atrophy and contractures as seen in SMALED2A.

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

Last Updated: Aug 5, 2023

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