11-88508638-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001143831.3(GRM5):c.3593A>G(p.Asp1198Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001143831.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRM5 | ENST00000305447.5 | c.3593A>G | p.Asp1198Gly | missense_variant | Exon 10 of 10 | 1 | NM_001143831.3 | ENSP00000306138.4 | ||
GRM5 | ENST00000305432.9 | c.3497A>G | p.Asp1166Gly | missense_variant | Exon 8 of 8 | 1 | ENSP00000305905.5 | |||
GRM5 | ENST00000455756.6 | c.3497A>G | p.Asp1166Gly | missense_variant | Exon 9 of 9 | 2 | ENSP00000405690.2 | |||
GRM5-AS1 | ENST00000526448.1 | n.4063T>C | non_coding_transcript_exon_variant | Exon 1 of 6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3593A>G (p.D1198G) alteration is located in exon 9 (coding exon 9) of the GRM5 gene. This alteration results from a A to G substitution at nucleotide position 3593, causing the aspartic acid (D) at amino acid position 1198 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.