2-240630032-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_005301.5(GPR35):c.80T>C(p.Leu27Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000134 in 1,612,836 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. Variant has been reported in ClinVar 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 -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPR35 | NM_005301.5 | c.80T>C | p.Leu27Ser | missense_variant | 2/2 | ENST00000407714.2 | |
GPR35 | NM_001195381.3 | c.173T>C | p.Leu58Ser | missense_variant | 6/6 | ||
GPR35 | NM_001195382.3 | c.173T>C | p.Leu58Ser | missense_variant | 6/6 | ||
GPR35 | NM_001394730.1 | c.173T>C | p.Leu58Ser | missense_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR35 | ENST00000407714.2 | c.80T>C | p.Leu27Ser | missense_variant | 2/2 | 1 | NM_005301.5 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000677 AC: 103AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000164 AC: 41AN: 250508Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135604
GnomAD4 exome AF: 0.0000774 AC: 113AN: 1460524Hom.: 0 Cov.: 33 AF XY: 0.0000716 AC XY: 52AN XY: 726622
GnomAD4 genome ? AF: 0.000676 AC: 103AN: 152312Hom.: 0 Cov.: 33 AF XY: 0.000685 AC XY: 51AN XY: 74482
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 31, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at