NM_152564.5(VPS13B):c.6047-15T>C AND Cohen syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 11, 2023
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:: RCV003836956.1

Allele description

NM_152564.5(VPS13B):c.6047-15T>C

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.6047-15T>C

HGVS:

NC_000008.11:g.99699510T>C
NG_007098.2:g.691245T>C
NM_017890.5:c.6122-15T>C
NM_152564.5:c.6047-15T>CMANE SELECT
LRG_351:g.691245T>C
NC_000008.10:g.100711738T>C

Molecular consequence:

NM_017890.5:c.6122-15T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_152564.5:c.6047-15T>C - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

Clear Turn Off Turn On

Development of the guideline - Suspected neurological conditions
Development of the guideline - Suspected neurological conditions
Selenomonas sp. FOBRC6, whole genome shotgun sequencing project
Selenomonas sp. FOBRC6, whole genome shotgun sequencing project
gi|400189767|gb|ALKG00000000.1|ALKG 000

Nucleotide
Celastrus pringlei isolate G 18S ribosomal RNA gene, partial sequence; internal ...
Celastrus pringlei isolate G 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|385276741|gb|JQ424127.1|

Nucleotide
UNVERIFIED: Celastrus pringlei isolate G tRNA-Leu (trnL), trnL-trnF intergenic s...
UNVERIFIED: Celastrus pringlei isolate G tRNA-Leu (trnL), trnL-trnF intergenic spacer, partial sequence; chloroplast
gi|385276961|gb|JQ424293.1|

Nucleotide
Celastrus pringlei isolate G PsbA (pabA) gene, partial cds; psbA-trnH intergenic...
Celastrus pringlei isolate G PsbA (pabA) gene, partial cds; psbA-trnH intergenic spacer, complete sequence; and tRNA-His (trnH) gene, partial sequence; chloroplast
gi|385276827|gb|JQ424182.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004636229	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004636229

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 11, 2023)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004636229.1

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

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

Last Updated: Mar 5, 2024

ClinVar

Relating variation to medicine