rs2361636
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000044.6(AR):c.1768+2335G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0574 in 109,462 control chromosomes in the GnomAD database, including 473 homozygotes. There are 1,557 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000044.6 intron
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 |
---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.1768+2335G>A | intron_variant | ENST00000374690.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.1768+2335G>A | intron_variant | 1 | NM_000044.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0574 AC: 6275AN: 109411Hom.: 473 Cov.: 22 AF XY: 0.0487 AC XY: 1552AN XY: 31869
GnomAD4 genome ? AF: 0.0574 AC: 6284AN: 109462Hom.: 473 Cov.: 22 AF XY: 0.0488 AC XY: 1557AN XY: 31930
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at