U.S. flag

An official website of the United States government

NM_001003800.2(BICD2):c.2036T>G (p.Leu679Arg) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 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:
RCV001375944.1

Allele description [Variation Report for NM_001003800.2(BICD2):c.2036T>G (p.Leu679Arg)]

NM_001003800.2(BICD2):c.2036T>G (p.Leu679Arg)

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.2036T>G (p.Leu679Arg)
HGVS:
  • NC_000009.12:g.92718609A>C
  • NG_033908.1:g.51193T>G
  • NM_001003800.2:c.2036T>GMANE SELECT
  • NM_015250.4:c.2036T>G
  • NP_001003800.1:p.Leu679Arg
  • NP_056065.1:p.Leu679Arg
  • NC_000009.11:g.95480891A>C
  • NM_015250.3:c.2036T>G
Protein change:
L679R
Links:
dbSNP: rs2131499599
NCBI 1000 Genomes Browser:
rs2131499599
Molecular consequence:
  • NM_001003800.2:c.2036T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015250.4:c.2036T>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572930Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 12, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS, SCV001572930.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023