rs2292596
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001377236.1(AHRR):āc.553C>Gā(p.Pro185Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.375 in 1,612,388 control chromosomes in the GnomAD database, including 117,292 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001377236.1 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 |
---|---|---|---|---|---|---|---|
AHRR | NM_001377236.1 | c.553C>G | p.Pro185Ala | missense_variant | 6/11 | ENST00000684583.1 | |
PDCD6-AHRR | NR_165159.2 | n.846C>G | non_coding_transcript_exon_variant | 8/14 | |||
AHRR | NM_001377239.1 | c.553C>G | p.Pro185Ala | missense_variant | 6/11 | ||
PDCD6-AHRR | NR_165163.2 | n.846C>G | non_coding_transcript_exon_variant | 8/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHRR | ENST00000684583.1 | c.553C>G | p.Pro185Ala | missense_variant | 6/11 | NM_001377236.1 | P1 | ||
AHRR | ENST00000316418.10 | c.553C>G | p.Pro185Ala | missense_variant | 6/11 | 1 | P1 | ||
AHRR | ENST00000506456.1 | c.133C>G | p.Pro45Ala | missense_variant | 2/7 | 2 | |||
AHRR | ENST00000510910.1 | n.464C>G | non_coding_transcript_exon_variant | 1/2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.318 AC: 48390AN: 151996Hom.: 8660 Cov.: 32
GnomAD3 exomes AF: 0.375 AC: 93047AN: 248018Hom.: 18525 AF XY: 0.387 AC XY: 52153AN XY: 134598
GnomAD4 exome AF: 0.381 AC: 556402AN: 1460274Hom.: 108636 Cov.: 46 AF XY: 0.385 AC XY: 279507AN XY: 726198
GnomAD4 genome AF: 0.318 AC: 48383AN: 152114Hom.: 8656 Cov.: 32 AF XY: 0.325 AC XY: 24178AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at