NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup) AND Cohen syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 15, 2017
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:: RCV000666898.1

Allele description [Variation Report for NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup)]

NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup)

Gene:

VPS13B:vacuolar protein sorting 13 homolog B [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

8q22.2

Genomic location:

Preferred name:

NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup)

HGVS:

NC_000008.11:g.99875486_99875488dup
NG_007098.2:g.867221_867223dup
NM_017890.5:c.11889_11891dup
NM_152564.5:c.11814_11816dupMANE SELECT
NP_060360.3:p.Ser3964dup
NP_689777.3:p.Ser3939dup
LRG_351:g.867221_867223dup
NC_000008.10:g.100887714_100887716dup
NM_017890.4:c.11889_11891dupATC

Links:

dbSNP: rs1236948038

NCBI 1000 Genomes Browser:

rs1236948038

Molecular consequence:

NM_017890.5:c.11889_11891dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_152564.5:c.11814_11816dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000791268	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 15, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791268

Counsyl

criteria provided, single submitter

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

Uncertain significance
(May 15, 2017)

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, SCV000791268.1

#	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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