rs754515125
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000374690.9(AR):c.2450-6C>A variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000374690.9 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.2450-6C>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000374690.9 | NP_000035.2 | |||
AR | NM_001011645.3 | c.854-6C>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | NP_001011645.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.2450-6C>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000044.6 | ENSP00000363822 | P1 | |||
AR | ENST00000396044.8 | c.2174-865C>A | intron_variant | 1 | ENSP00000379359 | |||||
AR | ENST00000396043.4 | c.*798-6C>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, NMD_transcript_variant | 1 | ENSP00000379358 | |||||
AR | ENST00000612452.5 | c.2450-6C>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, NMD_transcript_variant | 5 | ENSP00000484033 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.00000552 AC: 1AN: 181306Hom.: 0 AF XY: 0.0000151 AC XY: 1AN XY: 66166
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000182 AC: 2AN: 1097417Hom.: 0 Cov.: 31 AF XY: 0.00000551 AC XY: 2AN XY: 362877
GnomAD4 genome Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at