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NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser) AND Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV003408265.1

Allele description [Variation Report for NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)]

NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)

Gene:
BICD2:BICD cargo adaptor 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)
HGVS:
  • NC_000009.12:g.92719154_92719156delinsTGA
  • NG_033908.1:g.50646_50648delinsTCA
  • NM_001003800.2:c.1489_1491delinsTCAMANE SELECT
  • NM_015250.4:c.1489_1491delinsTCA
  • NP_001003800.1:p.Glu497Ser
  • NP_056065.1:p.Glu497Ser
  • NC_000009.11:g.95481436_95481438delinsTGA
  • NM_001003800.1:c.1489_1491delGAGinsTCA
Protein change:
E497S
Molecular consequence:
  • NM_001003800.2:c.1489_1491delinsTCA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015250.4:c.1489_1491delinsTCA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
Synonyms:
Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
Identifiers:
MONDO: MONDO:0032660; MedGen: C4749003; OMIM: 618291

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004123271Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Jun 14, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004123271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BICD2 c.1489_1491delinsTCA, p.(Glu497Ser) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant lies in the middle region of the BICD2 protein that has been shown to interact with the KIF5A protein which is a microtubule motor involved in intracellular organelle transport (PMID: 20386726). Additionally, nearby missense variants such as p.Arg501Pro (ClinVar variation ID: 55862) and p.Lys508Thr (ClinVar variation ID: 55861) have been reported in the literature in multiple individuals with phenotypes consistent with spinal muscular atrophy and spastic paraplegia (PMID: 23664120; 25497877; 31127727). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1489_1491delinsTCA, p.(Glu497Ser) variant is classified as a variant of uncertain significance for spinal muscular atrophy, lower extremity predominant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024