rs1057519864
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_000044.6(AR):c.2629T>A(p.Phe877Ile) 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F877L) has been classified as Uncertain significance.
Frequency
Consequence
NM_000044.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.2629T>A | p.Phe877Ile | missense_variant | 8/8 | ENST00000374690.9 | |
AR | NM_001011645.3 | c.1033T>A | p.Phe345Ile | missense_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.2629T>A | p.Phe877Ile | missense_variant | 8/8 | 1 | NM_000044.6 | P1 | |
AR | ENST00000396044.8 | c.2195T>A | p.Val732Asp | missense_variant | 5/5 | 1 | |||
AR | ENST00000396043.4 | c.*977T>A | 3_prime_UTR_variant, NMD_transcript_variant | 9/9 | 1 | ||||
AR | ENST00000612452.5 | c.2629T>A | p.Phe877Ile | missense_variant, NMD_transcript_variant | 8/9 | 5 |
Frequencies
GnomAD3 genomes Cov.: 21
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 21
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.