rs1337075
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001348063.1(AR):c.1911C>T(p.Ile637Ile) variant causes a synonymous 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_001348063.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.1885+3455C>T | intron_variant | Intron 3 of 7 | ENST00000374690.9 | NP_000035.2 |
Ensembl
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