chr2-127650780-C-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001161417.2(GPR17):c.45C>A(p.Phe15Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00427 in 1,613,876 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001161417.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPR17 | ENST00000486700.2 | c.45C>A | p.Phe15Leu | missense_variant | Exon 2 of 2 | 1 | NM_001161417.2 | ENSP00000508383.1 | ||
LIMS2 | ENST00000355119.9 | c.359+3644G>T | intron_variant | Intron 4 of 9 | 1 | NM_001161403.3 | ENSP00000347240.4 |
Frequencies
GnomAD3 genomes AF: 0.00276 AC: 420AN: 152266Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00228 AC: 566AN: 248540Hom.: 2 AF XY: 0.00217 AC XY: 293AN XY: 134746
GnomAD4 exome AF: 0.00443 AC: 6470AN: 1461492Hom.: 18 Cov.: 31 AF XY: 0.00427 AC XY: 3104AN XY: 727040
GnomAD4 genome AF: 0.00276 AC: 420AN: 152384Hom.: 0 Cov.: 33 AF XY: 0.00272 AC XY: 203AN XY: 74518
ClinVar
Submissions by phenotype
not provided Benign:1
GPR17: BP4, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at