1-236142950-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003272.4(GPR137B):āc.328A>Gā(p.Ser110Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000397 in 1,614,078 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S110I) has been classified as Uncertain significance.
Frequency
Consequence
NM_003272.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPR137B | NM_003272.4 | c.328A>G | p.Ser110Gly | missense_variant | 1/7 | ENST00000366592.8 | |
GPR137B | XM_017002209.3 | c.328A>G | p.Ser110Gly | missense_variant | 1/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR137B | ENST00000366592.8 | c.328A>G | p.Ser110Gly | missense_variant | 1/7 | 1 | NM_003272.4 | P1 | |
GPR137B | ENST00000366591.4 | n.407A>G | non_coding_transcript_exon_variant | 1/2 | 3 | ||||
GPR137B | ENST00000419162.5 | c.328A>G | p.Ser110Gly | missense_variant, NMD_transcript_variant | 1/5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152230Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251428Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135900
GnomAD4 exome AF: 0.0000431 AC: 63AN: 1461848Hom.: 0 Cov.: 32 AF XY: 0.0000371 AC XY: 27AN XY: 727234
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152230Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at