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NM_000845.3(GRM8):c.2309C>T (p.Thr770Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 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:
RCV004396103.1

Allele description [Variation Report for NM_000845.3(GRM8):c.2309C>T (p.Thr770Met)]

NM_000845.3(GRM8):c.2309C>T (p.Thr770Met)

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.2309C>T (p.Thr770Met)
HGVS:
  • NC_000007.14:g.126533073G>A
  • NG_029532.1:g.724302C>T
  • NG_029532.2:g.724868C>T
  • NM_000845.3:c.2309C>TMANE SELECT
  • NM_001127323.1:c.2309C>T
  • NM_001127326.1:c.*874C>T
  • NM_001371083.1:c.2309C>T
  • NM_001371084.1:c.2309C>T
  • NM_001371085.1:c.2309C>T
  • NM_001371086.1:c.2309C>T
  • NM_001371087.1:c.1694C>T
  • NP_000836.2:p.Thr770Met
  • NP_001120795.1:p.Thr770Met
  • NP_001358012.1:p.Thr770Met
  • NP_001358013.1:p.Thr770Met
  • NP_001358014.1:p.Thr770Met
  • NP_001358015.1:p.Thr770Met
  • NP_001358016.1:p.Thr565Met
  • NC_000007.13:g.126173127G>A
  • NR_028041.1:n.2691C>T
  • NR_163849.1:n.2765C>T
  • NR_163850.1:n.1948C>T
Protein change:
T565M
Molecular consequence:
  • NM_000845.3:c.2309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127323.1:c.2309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371083.1:c.2309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371084.1:c.2309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371085.1:c.2309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371086.1:c.2309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371087.1:c.1694C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028041.1:n.2691C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163849.1:n.2765C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163850.1:n.1948C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004879954Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 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, SCV004879954.1

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

Description

The c.2309C>T (p.T770M) alteration is located in exon 9 (coding exon 8) of the GRM8 gene. This alteration results from a C to T substitution at nucleotide position 2309, causing the threonine (T) at amino acid position 770 to be replaced by a methionine (M). 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: May 7, 2024