chrX-67717484-G-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP3BP4_StrongBS2
The NM_000044.6(AR):c.2180G>T(p.Arg727Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000415 in 1,210,163 control chromosomes in the GnomAD database, including 3 homozygotes. There are 169 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000044.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000517 AC: 58AN: 112216Hom.: 0 Cov.: 24 AF XY: 0.000844 AC XY: 29AN XY: 34374
GnomAD3 exomes AF: 0.000909 AC: 166AN: 182614Hom.: 2 AF XY: 0.000848 AC XY: 57AN XY: 67216
GnomAD4 exome AF: 0.000404 AC: 444AN: 1097895Hom.: 3 Cov.: 32 AF XY: 0.000385 AC XY: 140AN XY: 363317
GnomAD4 genome AF: 0.000517 AC: 58AN: 112268Hom.: 0 Cov.: 24 AF XY: 0.000842 AC XY: 29AN XY: 34436
ClinVar
Submissions by phenotype
Prostate cancer susceptibility Pathogenic:1
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Malignant tumor of prostate Pathogenic:1
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Androgen resistance syndrome;C1839259:Kennedy disease Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at