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NM_001385282.1(GPRIN2):c.653C>T (p.Ala218Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 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:
RCV004265253.1

Allele description [Variation Report for NM_001385282.1(GPRIN2):c.653C>T (p.Ala218Val)]

NM_001385282.1(GPRIN2):c.653C>T (p.Ala218Val)

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.653C>T (p.Ala218Val)
HGVS:
  • NC_000010.11:g.46550084G>A
  • NM_001385275.1:c.653C>T
  • NM_001385276.1:c.653C>T
  • NM_001385277.1:c.653C>T
  • NM_001385278.1:c.653C>T
  • NM_001385279.1:c.653C>T
  • NM_001385280.1:c.653C>T
  • NM_001385281.1:c.653C>T
  • NM_001385282.1:c.653C>TMANE SELECT
  • NM_001385283.1:c.653C>T
  • NM_001385287.1:c.725C>T
  • NM_001385289.1:c.725C>T
  • NM_001385291.1:c.725C>T
  • NM_001385293.1:c.725C>T
  • NM_001385294.1:c.725C>T
  • NM_001385295.1:c.725C>T
  • NM_001385296.1:c.725C>T
  • NM_001385297.1:c.725C>T
  • NM_001385298.1:c.725C>T
  • NM_001385299.1:c.725C>T
  • NM_001385300.1:c.725C>T
  • NM_001385301.1:c.725C>T
  • NM_001394739.1:c.653C>T
  • NM_001394740.1:c.653C>T
  • NM_001394741.1:c.653C>T
  • NM_001394742.1:c.725C>T
  • NM_001394743.1:c.725C>T
  • NM_001394744.1:c.725C>T
  • NM_014696.5:c.653C>T
  • NP_001372204.1:p.Ala218Val
  • NP_001372205.1:p.Ala218Val
  • NP_001372206.1:p.Ala218Val
  • NP_001372207.1:p.Ala218Val
  • NP_001372208.1:p.Ala218Val
  • NP_001372209.1:p.Ala218Val
  • NP_001372210.1:p.Ala218Val
  • NP_001372211.1:p.Ala218Val
  • NP_001372212.1:p.Ala218Val
  • NP_001372216.1:p.Ala242Val
  • NP_001372218.1:p.Ala242Val
  • NP_001372220.1:p.Ala242Val
  • NP_001372222.1:p.Ala242Val
  • NP_001372223.1:p.Ala242Val
  • NP_001372224.1:p.Ala242Val
  • NP_001372225.1:p.Ala242Val
  • NP_001372226.1:p.Ala242Val
  • NP_001372227.1:p.Ala242Val
  • NP_001372228.1:p.Ala242Val
  • NP_001372229.1:p.Ala242Val
  • NP_001372230.1:p.Ala242Val
  • NP_001381668.1:p.Ala218Val
  • NP_001381669.1:p.Ala218Val
  • NP_001381670.1:p.Ala218Val
  • NP_001381671.1:p.Ala242Val
  • NP_001381672.1:p.Ala242Val
  • NP_001381673.1:p.Ala242Val
  • NP_055511.2:p.Ala218Val
  • NC_000010.10:g.46999533C>T
  • NM_014696.3:c.653C>T
Protein change:
A218V
Molecular consequence:
  • NM_001385275.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385276.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385277.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385278.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385279.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385280.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385281.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385282.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385283.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385287.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385289.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385291.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385293.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385294.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385295.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385296.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385297.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385298.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385299.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385300.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385301.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394739.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394740.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394741.1:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394742.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394743.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394744.1:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014696.5:c.653C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003892699Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003892699.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.653C>T (p.A218V) alteration is located in exon 3 (coding exon 1) of the GPRIN2 gene. This alteration results from a C to T substitution at nucleotide position 653, causing the alanine (A) at amino acid position 218 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024