NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys) AND Cohen syndrome

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000050054.2

Allele description [Variation Report for NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys)]

NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys)

Gene:

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

Variant type:

Indel

Cytogenetic location:

8q22.2

Genomic location:

Preferred name:

NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys)

HGVS:

NC_000008.11:g.99871657_99871661delinsAA
NG_007098.2:g.863392_863396delinsAA
NM_017890.5:c.11780_11784delinsAA
NM_152564.5:c.11705_11709delinsAAMANE SELECT
NP_060360.3:p.Thr3927_Val3928delinsLys
NP_689777.3:p.Thr3902_Val3903delinsLys
LRG_351:g.863392_863396delinsAA
NC_000008.10:g.100883885_100883889delinsAA
NM_017890.4:c.11780_11784delCAGTGinsAA

Links:

dbSNP: rs386834067

NCBI 1000 Genomes Browser:

rs386834067

Molecular consequence:

NM_017890.5:c.11780_11784delinsAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_152564.5:c.11705_11709delinsAA - inframe_indel - [Sequence Ontology: SO:0001820]

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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UI-R-DZ0-cko-n-09-0-UI.s1 NCI_CGAP_DZ0 Rattus norvegicus cDNA clone IMAGE:733853...
UI-R-DZ0-cko-n-09-0-UI.s1 NCI_CGAP_DZ0 Rattus norvegicus cDNA clone IMAGE:7338539 3', mRNA sequence
gi|18189132|gnl|dbEST|10816572|gb|B 79.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000082463	Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	no assertion criteria provided	probable-pathogenic	unknown	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000082463

Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

no assertion criteria provided

probable-pathogenic

unknown

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082463.1

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

Description

Converted during submission to Likely pathogenic.

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

Last Updated: May 7, 2024

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