NM_000532.4(PCCB):c.649dupG (p.Val217Glyfs) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 8, 2014
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:: RCV000186091.1

Allele description

NM_000532.4(PCCB):c.649dupG (p.Val217Glyfs)

Gene:

PCCB:propionyl-CoA carboxylase beta subunit [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q22.3

Genomic location:

Preferred name:

NM_000532.4(PCCB):c.649dupG (p.Val217Glyfs)

HGVS:

NC_000003.12:g.136283942dupG
NG_008939.1:g.38618dupG
NM_000532.4:c.649dupG
NP_000523.2:p.Val217Glyfs
NC_000003.11:g.136002784dupG
p.V217GfsX13

Links:

dbSNP: rs796052021

NCBI 1000 Genomes Browser:

rs796052021

Molecular consequence:

NM_000532.4:c.649dupG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000239115	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 8, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000239115

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 8, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000239115.2

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

Description

The c.649dupG, the normal sequence with the base that is duplicated in braces is: CATG{G}TAAA. The c.649dupG mutation causes a frameshift starting with codon Valine 217, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Val217GlyfsX13. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, it is expected to be a pathogenic mutation. The variant is found in PCCB,PCCB panel(s).

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

Last Updated: Dec 11, 2017

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