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NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2021
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:
RCV002563102.5

Allele description [Variation Report for NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu)]

NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu)

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.2042C>T (p.Ser681Leu)
HGVS:
  • NC_000009.12:g.92718603G>A
  • NG_033908.1:g.51199C>T
  • NM_001003800.2:c.2042C>TMANE SELECT
  • NM_015250.4:c.2042C>T
  • NP_001003800.1:p.Ser681Leu
  • NP_056065.1:p.Ser681Leu
  • NC_000009.11:g.95480885G>A
  • NM_001003800.1:c.2042C>T
Protein change:
S681L
Links:
dbSNP: rs1853375829
NCBI 1000 Genomes Browser:
rs1853375829
Molecular consequence:
  • NM_001003800.2:c.2042C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015250.4:c.2042C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003554328Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 22, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N.

BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632.

PubMed [citation]
PMID:
30373780
PMCID:
PMC6224714

Details of each submission

From Ambry Genetics, SCV003554328.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.2042C>T (p.S681L) alteration is located in exon 5 (coding exon 5) of the BICD2 gene. This alteration results from a C to T substitution at nucleotide position 2042, causing the serine (S) at amino acid position 681 to be replaced by a leucine (L). Based on data from the Genome Aggregation Database (gnomAD), the BICD2 c.2042C>T alteration was not observed, with coverage at this position. This alteration was described in an 8 year old female with Charcot-Marie-Tooth disease 2 who was reported to be positive for deep tendon reflexes, foot deformities, muscular weakness and wasting of distal muscles; negative for sensory loss (Bacquet, 2018). This amino acid position is highly conserved in available vertebrate species. The in silico prediction for the p.S681L alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 19, 2024