11-88509031-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001143831.3(GRM5):c.3200G>A(p.Arg1067His) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001143831.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRM5 | ENST00000305447.5 | c.3200G>A | p.Arg1067His | missense_variant | Exon 10 of 10 | 1 | NM_001143831.3 | ENSP00000306138.4 | ||
GRM5 | ENST00000305432.9 | c.3104G>A | p.Arg1035His | missense_variant | Exon 8 of 8 | 1 | ENSP00000305905.5 | |||
GRM5 | ENST00000455756.6 | c.3104G>A | p.Arg1035His | missense_variant | Exon 9 of 9 | 2 | ENSP00000405690.2 | |||
GRM5-AS1 | ENST00000526448.1 | n.4364+92C>T | intron_variant | Intron 1 of 5 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1413110Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 698232
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
The GRM5 c.3200G>A (p.Arg1067His) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in version 2.1.1 or version 3.1.1 of the Genome Aggregation Database despite its location in a region of good sequence coverage, which suggests the variant is rare. Based on the available evidence, the p.Arg1067His variant is classified as a variant of uncertain significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.