rs548753085
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005301.5(GPR35):c.33C>A(p.Ser11Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,456,308 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S11S) has been classified as Likely benign.
Frequency
Consequence
NM_005301.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GPR35 | NM_005301.5 | c.33C>A | p.Ser11Arg | missense_variant | Exon 2 of 2 | ENST00000407714.2 | NP_005292.2 | |
GPR35 | NM_001195381.3 | c.126C>A | p.Ser42Arg | missense_variant | Exon 6 of 6 | NP_001182310.1 | ||
GPR35 | NM_001195382.3 | c.126C>A | p.Ser42Arg | missense_variant | Exon 6 of 6 | NP_001182311.1 | ||
GPR35 | NM_001394730.1 | c.126C>A | p.Ser42Arg | missense_variant | Exon 6 of 6 | NP_001381659.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456308Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 723520
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.