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NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) AND History of neurodevelopmental disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 29, 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:
RCV000716590.2

Allele description

NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)

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.8903A>G (p.Asn2968Ser)
Other names:
N2993S
HGVS:
  • NC_000008.11:g.99820031A>G
  • NG_007098.2:g.811766A>G
  • NM_017890.5:c.8978A>G
  • NM_152564.5:c.8903A>GMANE SELECT
  • NP_060360.3:p.Asn2993Ser
  • NP_689777.3:p.Asn2968Ser
  • LRG_351t1:c.8978A>G
  • LRG_351:g.811766A>G
  • LRG_351p1:p.Asn2993Ser
  • NC_000008.10:g.100832259A>G
  • NM_017890.3:c.8978A>G
  • NM_017890.4:c.8978A>G
  • Q7Z7G8:p.Asn2993Ser
Protein change:
N2968S; ASN2993SER
Links:
UniProtKB: Q7Z7G8#VAR_038424; OMIM: 607817.0004; dbSNP: rs28940272
NCBI 1000 Genomes Browser:
rs28940272
Molecular consequence:
  • NM_017890.5:c.8978A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152564.5:c.8903A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000847431Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Likely benign
(Sep 29, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD.

Am J Hum Genet. 2004 Jul;75(1):122-7. Epub 2004 May 12.

PubMed [citation]
PMID:
15141358
PMCID:
PMC1181995

Details of each submission

From Ambry Genetics, SCV000847431.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Other data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 19, 2022