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NM_015378.4(VPS13D):c.10917+4A>G AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 20, 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:
RCV002572689.2

Allele description [Variation Report for NM_015378.4(VPS13D):c.10917+4A>G]

NM_015378.4(VPS13D):c.10917+4A>G

Gene:
VPS13D:vacuolar protein sorting 13 homolog D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_015378.4(VPS13D):c.10917+4A>G
HGVS:
  • NC_000001.11:g.12373862A>G
  • NG_056877.1:g.148824A>G
  • NM_015378.3:c.10917+4A>G
  • NM_015378.4:c.10917+4A>GMANE SELECT
  • NM_018156.4:c.10842+4A>G
  • LRG_1213t1:c.10917+4A>G
  • LRG_1213:g.148824A>G
  • NC_000001.10:g.12433917A>G
  • NM_015378.2:c.10917+4A>G
Molecular consequence:
  • NM_015378.4:c.10917+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018156.4:c.10842+4A>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV003578631Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 20, 2021)
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, SCV003578631.2

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

Description

The c.10917+4A>G intronic alteration consists of a A to G substitution 4 nucleotides after exon 55 (coding exon 54) of the VPS13D gene. 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