rs1801257
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_201525.4(ADGRG1):c.843C>A(p.Ser281Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,420 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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 ClinVar. Synonymous variant affecting the same amino acid position (i.e. S281S) has been classified as Likely benign.
Frequency
Consequence
NM_201525.4 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 |
---|---|---|---|---|---|---|---|
ADGRG1 | NM_201525.4 | c.843C>A | p.Ser281Arg | missense_variant | 6/14 | ENST00000562631.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRG1 | ENST00000562631.7 | c.843C>A | p.Ser281Arg | missense_variant | 6/14 | 1 | NM_201525.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 151930Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250900Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135698
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461490Hom.: 0 Cov.: 46 AF XY: 0.0000124 AC XY: 9AN XY: 727058
GnomAD4 genome AF: 0.0000592 AC: 9AN: 151930Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74162
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at