NM_006196.4(PCBP1):c.550C>T (p.Gln184Ter) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 17, 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:: RCV000190723.6

Allele description [Variation Report for NM_006196.4(PCBP1):c.550C>T (p.Gln184Ter)]

NM_006196.4(PCBP1):c.550C>T (p.Gln184Ter)

Gene:

PCBP1:poly(rC) binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.3

Genomic location:

Preferred name:

NM_006196.4(PCBP1):c.550C>T (p.Gln184Ter)

HGVS:

NC_000002.12:g.70088293C>T
NG_029956.1:g.5841C>T
NM_006196.4:c.550C>TMANE SELECT
NP_006187.2:p.Gln184Ter
NC_000002.11:g.70315425C>T
NM_006196.3:c.550C>T

Protein change:

Q184*

Links:

dbSNP: rs797044899

NCBI 1000 Genomes Browser:

rs797044899

Molecular consequence:

NM_006196.4:c.550C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000244164	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Likely pathogenic (Jun 17, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000244164

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Likely pathogenic
(Jun 17, 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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000244164.8

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

Description

The c.550C>T (p.Q184*) alteration, located in exon 1 (coding exon 1) of the PCBP1 gene, consists of a C to T substitution at nucleotide position 550. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 184. Premature stop codons are typically deleterious in nature (Richards, 2015). Based on the available evidence, this alteration is classified as likely pathogenic.

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

Last Updated: Feb 7, 2023

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