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NM_000843.4(GRM6):c.415C>A (p.Pro139Thr) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 21, 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:
RCV002553307.2

Allele description [Variation Report for NM_000843.4(GRM6):c.415C>A (p.Pro139Thr)]

NM_000843.4(GRM6):c.415C>A (p.Pro139Thr)

Gene:
GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_000843.4(GRM6):c.415C>A (p.Pro139Thr)
HGVS:
  • NC_000005.10:g.178994530G>T
  • NG_008105.1:g.5594C>A
  • NM_000843.4:c.415C>AMANE SELECT
  • NP_000834.2:p.Pro139Thr
  • LRG_1236t1:c.415C>A
  • LRG_1236:g.5594C>A
  • LRG_1236p1:p.Pro139Thr
  • NC_000005.9:g.178421531G>T
  • NM_000843.3:c.415C>A
Protein change:
P139T
Links:
dbSNP: rs971140136
NCBI 1000 Genomes Browser:
rs971140136
Molecular consequence:
  • NM_000843.4:c.415C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003700314Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 21, 2021) 		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, SCV003700314.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 13, 2024