chrX-67689581-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000044.6(AR):c.1885+3455C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0117 in 962,744 control chromosomes in the GnomAD database, including 836 homozygotes. There are 2,933 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.1885+3455C>T | intron_variant | ENST00000374690.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.1885+3455C>T | intron_variant | 1 | NM_000044.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0579 AC: 6404AN: 110631Hom.: 477 Cov.: 23 AF XY: 0.0508 AC XY: 1675AN XY: 32949
GnomAD3 exomes AF: 0.0109 AC: 946AN: 86730Hom.: 74 AF XY: 0.00499 AC XY: 146AN XY: 29246
GnomAD4 exome AF: 0.00567 AC: 4827AN: 852062Hom.: 359 Cov.: 28 AF XY: 0.00458 AC XY: 1252AN XY: 273604
GnomAD4 genome AF: 0.0579 AC: 6414AN: 110682Hom.: 477 Cov.: 23 AF XY: 0.0509 AC XY: 1681AN XY: 33010
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at