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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000799132	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 11, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799132

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 11, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000799132.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 17, 2022

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