rs137852570
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PM5PP3_ModeratePP5
The ENST00000374690.9(AR):c.2362A>G(p.Met788Val) 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. M788R) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000374690.9 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.2362A>G | p.Met788Val | missense_variant | 6/8 | ENST00000374690.9 | NP_000035.2 | |
AR | NM_001011645.3 | c.766A>G | p.Met256Val | missense_variant | 7/9 | NP_001011645.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.2362A>G | p.Met788Val | missense_variant | 6/8 | 1 | NM_000044.6 | ENSP00000363822 | P1 | |
AR | ENST00000396044.8 | c.2174-1810A>G | intron_variant | 1 | ENSP00000379359 | |||||
AR | ENST00000396043.4 | c.*710A>G | 3_prime_UTR_variant, NMD_transcript_variant | 7/9 | 1 | ENSP00000379358 | ||||
AR | ENST00000612452.5 | c.2362A>G | p.Met788Val | missense_variant, NMD_transcript_variant | 6/9 | 5 | ENSP00000484033 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
Androgen resistance syndrome Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 1992 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at