NM_002819.5(PTBP1):c.512T>C (p.Val171Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 18, 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:: RCV004302171.1

Allele description [Variation Report for NM_002819.5(PTBP1):c.512T>C (p.Val171Ala)]

NM_002819.5(PTBP1):c.512T>C (p.Val171Ala)

Gene:

PTBP1:polypyrimidine tract binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_002819.5(PTBP1):c.512T>C (p.Val171Ala)

HGVS:

NC_000019.10:g.804608T>C
NM_001411140.1:c.518T>C
NM_002819.5:c.512T>CMANE SELECT
NM_031990.4:c.512T>C
NM_031991.4:c.512T>C
NP_001398069.1:p.Val173Ala
NP_002810.1:p.Val171Ala
NP_114367.1:p.Val171Ala
NP_114368.1:p.Val171Ala
NC_000019.9:g.804608T>C
NM_002819.4:c.512T>C

Protein change:

V171A

Molecular consequence:

NM_001411140.1:c.518T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002819.5:c.512T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_031990.4:c.512T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_031991.4:c.512T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

ventral expressed homeobox [Danio rerio]
ventral expressed homeobox [Danio rerio]
gi|18859547|ref|NP_571775.1|

Protein
rpp25l ribonuclease P/MRP 25 subunit-like [Danio rerio]
rpp25l ribonuclease P/MRP 25 subunit-like [Danio rerio]
Gene ID:436813

Gene

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
SCV003954254	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003954254

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 18, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003954254.2

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

Description

The c.512T>C (p.V171A) alteration is located in exon 6 (coding exon 6) of the PTBP1 gene. This alteration results from a T to C substitution at nucleotide position 512, causing the valine (V) at amino acid position 171 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

ClinVar

Relating variation to medicine