chr1-27394463-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005281.4(GPR3):c.665G>A(p.Arg222His) variant causes a missense change. The variant allele was found at a frequency of 0.00289 in 1,613,992 control chromosomes in the GnomAD database, including 94 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005281.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPR3 | NM_005281.4 | c.665G>A | p.Arg222His | missense_variant | 2/2 | ENST00000374024.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR3 | ENST00000374024.4 | c.665G>A | p.Arg222His | missense_variant | 2/2 | 1 | NM_005281.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0150 AC: 2283AN: 152122Hom.: 49 Cov.: 33
GnomAD3 exomes AF: 0.00408 AC: 1024AN: 251244Hom.: 20 AF XY: 0.00292 AC XY: 396AN XY: 135802
GnomAD4 exome AF: 0.00162 AC: 2373AN: 1461752Hom.: 45 Cov.: 32 AF XY: 0.00145 AC XY: 1055AN XY: 727190
GnomAD4 genome AF: 0.0150 AC: 2287AN: 152240Hom.: 49 Cov.: 33 AF XY: 0.0148 AC XY: 1100AN XY: 74428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at