NM_001170880.2(GPR137):c.386G>A (p.Arg129Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2022
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:: RCV004189943.1

Allele description [Variation Report for NM_001170880.2(GPR137):c.386G>A (p.Arg129Gln)]

NM_001170880.2(GPR137):c.386G>A (p.Arg129Gln)

Gene:

GPR137:G protein-coupled receptor 137 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_001170880.2(GPR137):c.386G>A (p.Arg129Gln)

Other names:

NM_001170726.1:c.560G>A

HGVS:

NC_000011.10:g.64286993G>A
NM_001170880.2:c.386G>AMANE SELECT
NM_001170881.2:c.386G>A
NM_001177358.2:c.386G>A
NM_001378076.1:c.386G>A
NM_001378077.1:c.386G>A
NM_001378078.1:c.386G>A
NM_001378079.1:c.386G>A
NM_001378080.1:c.386G>A
NM_001378081.1:c.386G>A
NM_001378082.1:c.386G>A
NM_001378083.1:c.386G>A
NM_001378084.1:c.386G>A
NM_001378085.1:c.386G>A
NM_001378086.1:c.386G>A
NM_001378087.1:c.386G>A
NM_001378088.1:c.386G>A
NM_001378089.1:c.386G>A
NM_020155.4:c.386G>A
NP_001164351.1:p.Arg129Gln
NP_001164352.1:p.Arg129Gln
NP_001170829.1:p.Arg129Gln
NP_001365005.1:p.Arg129Gln
NP_001365006.1:p.Arg129Gln
NP_001365007.1:p.Arg129Gln
NP_001365008.1:p.Arg129Gln
NP_001365009.1:p.Arg129Gln
NP_001365010.1:p.Arg129Gln
NP_001365011.1:p.Arg129Gln
NP_001365012.1:p.Arg129Gln
NP_001365013.1:p.Arg129Gln
NP_001365014.1:p.Arg129Gln
NP_001365015.1:p.Arg129Gln
NP_001365016.1:p.Arg129Gln
NP_001365017.1:p.Arg129Gln
NP_001365018.1:p.Arg129Gln
NP_064540.3:p.Arg129Gln
NC_000011.9:g.64054465G>A
NR_165394.1:n.939G>A
NR_165395.1:n.939G>A
NR_165396.1:n.1063G>A
NR_165397.1:n.1063G>A

Protein change:

R129Q

Molecular consequence:

NM_001170880.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001170881.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001177358.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378076.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378077.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378078.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378079.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378080.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378081.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378082.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378083.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378084.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378085.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378086.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378087.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378088.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378089.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020155.4:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_165394.1:n.939G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165395.1:n.939G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165396.1:n.1063G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165397.1:n.1063G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003689269	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 14, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003689269

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 14, 2022)

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, SCV003689269.2

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

Description

The c.560G>A (p.R187Q) alteration is located in exon 4 (coding exon 4) of the GPR137 gene. This alteration results from a G to A substitution at nucleotide position 560, causing the arginine (R) at amino acid position 187 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: Jun 9, 2024

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