rs3749171
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005301.5(GPR35):c.323C>G(p.Thr108Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. T108M) has been classified as Benign.
Frequency
Consequence
NM_005301.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPR35 | NM_005301.5 | c.323C>G | p.Thr108Arg | missense_variant | 2/2 | ENST00000407714.2 | |
GPR35 | NM_001195381.3 | c.416C>G | p.Thr139Arg | missense_variant | 6/6 | ||
GPR35 | NM_001195382.3 | c.416C>G | p.Thr139Arg | missense_variant | 6/6 | ||
GPR35 | NM_001394730.1 | c.416C>G | p.Thr139Arg | missense_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR35 | ENST00000407714.2 | c.323C>G | p.Thr108Arg | missense_variant | 2/2 | 1 | NM_005301.5 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 44
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at