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NM_000844.4(GRM7):c.1033G>T (p.Gly345Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 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:
RCV003443704.1

Allele description [Variation Report for NM_000844.4(GRM7):c.1033G>T (p.Gly345Trp)]

NM_000844.4(GRM7):c.1033G>T (p.Gly345Trp)

Gene:
GRM7:glutamate metabotropic receptor 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p26.1
Genomic location:
Preferred name:
NM_000844.4(GRM7):c.1033G>T (p.Gly345Trp)
HGVS:
  • NC_000003.12:g.7306652G>T
  • NG_029781.1:g.450538G>T
  • NG_029781.2:g.450539G>T
  • NM_000844.4:c.1033G>TMANE SELECT
  • NM_181874.3:c.1033G>T
  • NP_000835.1:p.Gly345Trp
  • NP_870989.1:p.Gly345Trp
  • NC_000003.11:g.7348339G>T
  • NM_000844.3:c.1033G>T
Protein change:
G345W
Molecular consequence:
  • NM_000844.4:c.1033G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181874.3:c.1033G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004169328GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 16, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV004169328.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 25, 2023