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NM_000845.3(GRM8):c.1042C>T (p.Arg348Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004573039.1

Allele description [Variation Report for NM_000845.3(GRM8):c.1042C>T (p.Arg348Ter)]

NM_000845.3(GRM8):c.1042C>T (p.Arg348Ter)

Gene:
GRM8:glutamate metabotropic receptor 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.33
Genomic location:
Preferred name:
NM_000845.3(GRM8):c.1042C>T (p.Arg348Ter)
HGVS:
  • NC_000007.14:g.126902656G>A
  • NG_029532.1:g.354719C>T
  • NG_029532.2:g.355285C>T
  • NM_000845.3:c.1042C>TMANE SELECT
  • NM_001127323.1:c.1042C>T
  • NM_001127326.1:c.1042C>T
  • NM_001371083.1:c.1042C>T
  • NM_001371084.1:c.1042C>T
  • NM_001371085.1:c.1042C>T
  • NM_001371086.1:c.1042C>T
  • NM_001371087.1:c.427C>T
  • NM_001371088.1:c.1042C>T
  • NP_000836.2:p.Arg348Ter
  • NP_001120795.1:p.Arg348Ter
  • NP_001120798.1:p.Arg348Ter
  • NP_001358012.1:p.Arg348Ter
  • NP_001358013.1:p.Arg348Ter
  • NP_001358014.1:p.Arg348Ter
  • NP_001358015.1:p.Arg348Ter
  • NP_001358016.1:p.Arg143Ter
  • NP_001358017.1:p.Arg348Ter
  • NC_000007.13:g.126542710G>A
  • NR_028041.1:n.1353C>T
  • NR_163849.1:n.1498C>T
  • NR_163850.1:n.677C>T
Protein change:
R143*
Molecular consequence:
  • NR_028041.1:n.1353C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163849.1:n.1498C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163850.1:n.677C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000845.3:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127323.1:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127326.1:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371083.1:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371084.1:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371085.1:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371086.1:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371087.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371088.1:c.1042C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004175005Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
no assertion criteria provided
Uncertain significance
(Feb 16, 2022) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asianunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare, SCV004175005.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asiannot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024