11-3659785-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004314.3(ART1):c.266G>A(p.Arg89His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000973 in 1,613,272 control chromosomes in the GnomAD database, including 1 homozygotes. 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 (★).
Frequency
Consequence
NM_004314.3 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 |
---|---|---|---|---|---|---|---|
ART1 | NM_004314.3 | c.266G>A | p.Arg89His | missense_variant | 3/5 | ENST00000250693.2 | |
ART1 | XM_011520114.4 | c.266G>A | p.Arg89His | missense_variant | 4/6 | ||
ART1 | XM_017017763.3 | c.266G>A | p.Arg89His | missense_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ART1 | ENST00000250693.2 | c.266G>A | p.Arg89His | missense_variant | 3/5 | 1 | NM_004314.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000165 AC: 41AN: 248364Hom.: 0 AF XY: 0.000134 AC XY: 18AN XY: 134658
GnomAD4 exome AF: 0.0000917 AC: 134AN: 1460948Hom.: 1 Cov.: 32 AF XY: 0.0000826 AC XY: 60AN XY: 726796
GnomAD4 genome AF: 0.000151 AC: 23AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74490
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at