NM_001385282.1(GPRIN2):c.1259G>A (p.Arg420Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 6, 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:: RCV004184306.1

Allele description [Variation Report for NM_001385282.1(GPRIN2):c.1259G>A (p.Arg420Gln)]

NM_001385282.1(GPRIN2):c.1259G>A (p.Arg420Gln)

Gene:

GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.22

Genomic location:

Preferred name:

NM_001385282.1(GPRIN2):c.1259G>A (p.Arg420Gln)

HGVS:

NC_000010.11:g.46549478C>T
NM_001385275.1:c.1259G>A
NM_001385276.1:c.1259G>A
NM_001385277.1:c.1259G>A
NM_001385278.1:c.1259G>A
NM_001385279.1:c.1259G>A
NM_001385280.1:c.1259G>A
NM_001385281.1:c.1259G>A
NM_001385282.1:c.1259G>AMANE SELECT
NM_001385283.1:c.1259G>A
NM_001385287.1:c.1331G>A
NM_001385289.1:c.1331G>A
NM_001385291.1:c.1331G>A
NM_001385293.1:c.1331G>A
NM_001385294.1:c.1331G>A
NM_001385295.1:c.1331G>A
NM_001385296.1:c.1331G>A
NM_001385297.1:c.1331G>A
NM_001385298.1:c.1331G>A
NM_001385299.1:c.1331G>A
NM_001385300.1:c.1331G>A
NM_001385301.1:c.1331G>A
NM_001394739.1:c.1259G>A
NM_001394740.1:c.1259G>A
NM_001394741.1:c.1259G>A
NM_001394742.1:c.1331G>A
NM_001394743.1:c.1331G>A
NM_001394744.1:c.1331G>A
NM_014696.5:c.1259G>A
NP_001372204.1:p.Arg420Gln
NP_001372205.1:p.Arg420Gln
NP_001372206.1:p.Arg420Gln
NP_001372207.1:p.Arg420Gln
NP_001372208.1:p.Arg420Gln
NP_001372209.1:p.Arg420Gln
NP_001372210.1:p.Arg420Gln
NP_001372211.1:p.Arg420Gln
NP_001372212.1:p.Arg420Gln
NP_001372216.1:p.Arg444Gln
NP_001372218.1:p.Arg444Gln
NP_001372220.1:p.Arg444Gln
NP_001372222.1:p.Arg444Gln
NP_001372223.1:p.Arg444Gln
NP_001372224.1:p.Arg444Gln
NP_001372225.1:p.Arg444Gln
NP_001372226.1:p.Arg444Gln
NP_001372227.1:p.Arg444Gln
NP_001372228.1:p.Arg444Gln
NP_001372229.1:p.Arg444Gln
NP_001372230.1:p.Arg444Gln
NP_001381668.1:p.Arg420Gln
NP_001381669.1:p.Arg420Gln
NP_001381670.1:p.Arg420Gln
NP_001381671.1:p.Arg444Gln
NP_001381672.1:p.Arg444Gln
NP_001381673.1:p.Arg444Gln
NP_055511.2:p.Arg420Gln
NC_000010.10:g.47000139G>A
NM_014696.3:c.1259G>A

Protein change:

R420Q

Molecular consequence:

NM_001385275.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385276.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385277.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385278.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385279.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385280.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385281.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385282.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385283.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385287.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385289.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385291.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385293.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385294.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385295.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385296.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385297.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385298.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385299.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385300.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385301.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001394739.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001394740.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001394741.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001394742.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001394743.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001394744.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014696.5:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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cytochrome oxidase subunit 1, partial (mitochondrion) [Acromycter perturbator]
cytochrome oxidase subunit 1, partial (mitochondrion) [Acromycter perturbator]
gi|1832106689|gb|QJA14359.1|

Protein
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003679662	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 6, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003679662

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 6, 2021)

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, SCV003679662.2

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

Description

The c.1259G>A (p.R420Q) alteration is located in exon 3 (coding exon 1) of the GPRIN2 gene. This alteration results from a G to A substitution at nucleotide position 1259, causing the arginine (R) at amino acid position 420 to be replaced by a glutamine (Q). 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: Oct 26, 2024

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