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NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) AND Cohen syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 11, 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:
RCV000673879.1

Allele description [Variation Report for NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)]

NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)

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.1027C>T (p.Gln343Ter)
HGVS:
  • NC_000008.11:g.99121266C>T
  • NG_007098.2:g.113001C>T
  • NM_015243.3:c.1027C>T
  • NM_017890.5:c.1027C>T
  • NM_152564.5:c.1027C>TMANE SELECT
  • NM_181661.3:c.1027C>T
  • NP_056058.2:p.Gln343Ter
  • NP_060360.3:p.Gln343Ter
  • NP_060360.3:p.Gln343Ter
  • NP_689777.3:p.Gln343Ter
  • NP_858047.2:p.Gln343Ter
  • LRG_351t1:c.1027C>T
  • LRG_351:g.113001C>T
  • LRG_351p1:p.Gln343Ter
  • NC_000008.10:g.100133494C>T
  • NM_017890.4:c.1027C>T
  • NR_047582.2:n.1245C>T
Protein change:
Q343*
Links:
dbSNP: rs1554625632
NCBI 1000 Genomes Browser:
rs1554625632
Molecular consequence:
  • NR_047582.2:n.1245C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_015243.3:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017890.5:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152564.5:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181661.3:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cohen syndrome (COH1)
Synonyms:
Pepper syndrome; Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
Identifiers:
MONDO: MONDO:0008999; MedGen: C0265223; Orphanet: 193; OMIM: 216550

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000799132Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Apr 11, 2018) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000799132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 17, 2022