NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter) AND Skeletal dysplasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 10, 2021
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:: RCV002287497.1

Allele description [Variation Report for NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter)]

NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter)

Gene:

RAB33B:RAB33B, member RAS oncogene family [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.1

Genomic location:

Preferred name:

NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter)

HGVS:

NC_000004.12:g.139472836C>T
NG_051587.1:g.24605C>T
NM_031296.3:c.400C>TMANE SELECT
NP_112586.1:p.Gln134Ter
NC_000004.11:g.140393990C>T
NM_031296.1:c.400C>T

Protein change:

Q134*

Links:

dbSNP: rs1750416123

NCBI 1000 Genomes Browser:

rs1750416123

Molecular consequence:

NM_031296.3:c.400C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Skeletal dysplasia
Synonyms:: Primary bone dysplasia
Identifiers:: MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652

Recent activity

Clear Turn Off Turn On

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
SCV002577816	Institute of Human Genetics, University Hospital Muenster	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 10, 2021)	unknown	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

SCV002577816

Institute of Human Genetics, University Hospital Muenster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 10, 2021)

unknown

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	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, University Hospital Muenster, SCV002577816.1

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

Description

ACMG categories: PVS1,PM2,PP3,PP5

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

Last Updated: Oct 15, 2022

ClinVar

Relating variation to medicine