NM_032634.4(PIGO):c.356G>A (p.Arg119Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 18, 2020
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:: RCV001576264.3

Allele description [Variation Report for NM_032634.4(PIGO):c.356G>A (p.Arg119Gln)]

NM_032634.4(PIGO):c.356G>A (p.Arg119Gln)

Gene:

PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_032634.4(PIGO):c.356G>A (p.Arg119Gln)

HGVS:

NC_000009.12:g.35095210C>T
NG_031990.1:g.6392G>A
NM_001201484.2:c.356G>A
NM_032634.4:c.356G>AMANE SELECT
NM_152850.4:c.356G>A
NP_001188413.1:p.Arg119Gln
NP_116023.2:p.Arg119Gln
NP_690577.2:p.Arg119Gln
NC_000009.11:g.35095207C>T
NM_032634.3:c.356G>A

Protein change:

R119Q

Links:

dbSNP: rs753918558

NCBI 1000 Genomes Browser:

rs753918558

Molecular consequence:

NM_001201484.2:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032634.4:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152850.4:c.356G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV001803416	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 18, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001803416

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 18, 2020)

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, SCV001803416.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; A different missense change at this residue (R119W) has been reported in the Human Gene Mutation Database (Stenson et al., 2014)

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine