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NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 14, 2018
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:
RCV002397496.3

Allele description [Variation Report for NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)]

NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)

Gene:
VPS13B:vacuolar protein sorting 13 homolog B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.2
Genomic location:
Preferred name:
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
HGVS:
  • NC_000008.11:g.99778921G>A
  • NG_007098.2:g.770656G>A
  • NM_017890.5:c.7744G>A
  • NM_152564.4:c.7669G>A
  • NM_152564.5:c.7669G>AMANE SELECT
  • NP_060360.3:p.Asp2582Asn
  • NP_060360.3:p.Asp2582Asn
  • NP_689777.3:p.Asp2557Asn
  • LRG_351t1:c.7744G>A
  • LRG_351t2:c.7669G>A
  • LRG_351:g.770656G>A
  • LRG_351p1:p.Asp2582Asn
  • NC_000008.10:g.100791149G>A
  • NM_017890.3:c.7744G>A
  • NM_017890.4:c.7744G>A
Protein change:
D2557N
Links:
dbSNP: rs773242093
NCBI 1000 Genomes Browser:
rs773242093
Molecular consequence:
  • NM_017890.5:c.7744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152564.5:c.7669G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002672148Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Feb 14, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002672148.2

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

Description

The p.D2582N variant (also known as c.7744G>A), located in coding exon 41 of the VPS13B gene, results from a G to A substitution at nucleotide position 7744. The aspartic acid at codon 2582 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not conserved however, asparagine is a reference amino acid in several species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 13, 2024