chrX-67717595-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PM5PP3_ModeratePP5
The NM_000044.6(AR):c.2291A>G(p.Tyr764Cys) variant causes a missense change involving the alteration of a conserved nucleotide. 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 ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y764H) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000044.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.2291A>G | p.Tyr764Cys | missense_variant | 5/8 | ENST00000374690.9 | |
AR | NM_001011645.3 | c.695A>G | p.Tyr232Cys | missense_variant | 6/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.2291A>G | p.Tyr764Cys | missense_variant | 5/8 | 1 | NM_000044.6 | P1 | |
AR | ENST00000396044.8 | c.2173+5906A>G | intron_variant | 1 | |||||
AR | ENST00000396043.4 | c.*639A>G | 3_prime_UTR_variant, NMD_transcript_variant | 6/9 | 1 | ||||
AR | ENST00000612452.5 | c.2291A>G | p.Tyr764Cys | missense_variant, NMD_transcript_variant | 5/9 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 24
ClinVar
Submissions by phenotype
Partial androgen insensitivity syndrome Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 01, 1995 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at