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NM_000844.4(GRM7):c.368T>C (p.Val123Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2021
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV001876749.6

Allele description [Variation Report for NM_000844.4(GRM7):c.368T>C (p.Val123Ala)]

NM_000844.4(GRM7):c.368T>C (p.Val123Ala)

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.368T>C (p.Val123Ala)
HGVS:
  • NC_000003.12:g.6861756T>C
  • NG_029781.1:g.5642T>C
  • NM_000844.4:c.368T>CMANE SELECT
  • NM_181874.3:c.368T>C
  • NP_000835.1:p.Val123Ala
  • NP_870989.1:p.Val123Ala
  • NC_000003.11:g.6903443T>C
...more
Protein change:
V123A
Links:
dbSNP: rs2124924479
NCBI 1000 Genomes Browser:
rs2124924479
Molecular consequence:
  • NM_000844.4:c.368T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181874.3:c.368T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002119078Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Dec 3, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Sep 29, 2024

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