rs137852601
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP3_StrongPP5
The NM_000044.6(AR):c.2222C>A(p.Ser741Tyr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in Lovd as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S741C) has been classified as Pathogenic.
Frequency
Consequence
NM_000044.6 missense
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 | UniProt |
---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.2222C>A | p.Ser741Tyr | missense_variant | 5/8 | ENST00000374690.9 | |
AR | NM_001011645.3 | c.626C>A | p.Ser209Tyr | missense_variant | 6/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.2222C>A | p.Ser741Tyr | missense_variant | 5/8 | 1 | NM_000044.6 | P1 | |
AR | ENST00000396044.8 | c.2173+5837C>A | intron_variant | 1 | |||||
AR | ENST00000396043.4 | c.*570C>A | 3_prime_UTR_variant, NMD_transcript_variant | 6/9 | 1 | ||||
AR | ENST00000612452.5 | c.2222C>A | p.Ser741Tyr | missense_variant, NMD_transcript_variant | 5/9 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 24
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.