rs2645329
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000843.4(GRM6):c.176A>T(p.Gln59Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000163 in 1,223,376 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q59P) has been classified as Benign.
Frequency
Consequence
NM_000843.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRM6 | NM_000843.4 | c.176A>T | p.Gln59Leu | missense_variant | 2/11 | ENST00000517717.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRM6 | ENST00000517717.3 | c.176A>T | p.Gln59Leu | missense_variant | 2/11 | 5 | NM_000843.4 | P1 | |
GRM6 | ENST00000231188.9 | c.176A>T | p.Gln59Leu | missense_variant | 1/10 | 2 | P1 | ||
GRM6 | ENST00000650031.1 | c.176A>T | p.Gln59Leu | missense_variant | 3/12 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 0.00000163 AC: 2AN: 1223376Hom.: 0 Cov.: 41 AF XY: 0.00000166 AC XY: 1AN XY: 601392
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at