rs137852563
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2PP5
The ENST00000374690.9(AR):c.2157G>A(p.Trp719Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000916 in 1,091,528 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
ENST00000374690.9 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.2157G>A | p.Trp719Ter | stop_gained | 4/8 | ENST00000374690.9 | NP_000035.2 | |
AR | NM_001011645.3 | c.561G>A | p.Trp187Ter | stop_gained | 5/9 | NP_001011645.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.2157G>A | p.Trp719Ter | stop_gained | 4/8 | 1 | NM_000044.6 | ENSP00000363822 | P1 | |
AR | ENST00000396044.8 | c.2157G>A | p.Trp719Ter | stop_gained | 4/5 | 1 | ENSP00000379359 | |||
AR | ENST00000396043.4 | c.*505G>A | 3_prime_UTR_variant, NMD_transcript_variant | 5/9 | 1 | ENSP00000379358 | ||||
AR | ENST00000612452.5 | c.2157G>A | p.Trp719Ter | stop_gained, NMD_transcript_variant | 4/9 | 5 | ENSP00000484033 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000573 AC: 1AN: 174414Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 59802
GnomAD4 exome AF: 9.16e-7 AC: 1AN: 1091528Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 357586
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
Androgen resistance syndrome Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jun 01, 1990 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at