X-67546589-C-A
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_000044.6(AR):c.1443C>A(p.Tyr481Ter) variant causes a stop gained change involving the alteration of a non-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 (★). Synonymous variant affecting the same amino acid position (i.e. Y481Y) has been classified as Benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000044.6 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.1443C>A | p.Tyr481Ter | stop_gained | 1/8 | ENST00000374690.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.1443C>A | p.Tyr481Ter | stop_gained | 1/8 | 1 | NM_000044.6 | P1 |
Frequencies
GnomAD3 genomes Cov.: 21
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 21
ClinVar
Submissions by phenotype
Androgen resistance syndrome;C1839259:Kennedy disease Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | Invitae | Jun 02, 2021 | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of androgen insensitivity syndrome (PMID: 10571951). This variant is also known as Y480Ter. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr481*) in the AR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.