chrX-67545191-G-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_000044.6(AR):c.45G>A(p.Pro15=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00034 in 1,204,255 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 141 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. P15P) has been classified as Likely benign.
Frequency
Consequence
NM_000044.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.45G>A | p.Pro15= | synonymous_variant | 1/8 | ENST00000374690.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AR | ENST00000374690.9 | c.45G>A | p.Pro15= | synonymous_variant | 1/8 | 1 | NM_000044.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000127 AC: 14AN: 110353Hom.: 0 Cov.: 21 AF XY: 0.0000307 AC XY: 1AN XY: 32589
GnomAD3 exomes AF: 0.000278 AC: 49AN: 176388Hom.: 0 AF XY: 0.000355 AC XY: 22AN XY: 61898
GnomAD4 exome AF: 0.000362 AC: 396AN: 1093902Hom.: 0 Cov.: 30 AF XY: 0.000389 AC XY: 140AN XY: 360096
GnomAD4 genome AF: 0.000127 AC: 14AN: 110353Hom.: 0 Cov.: 21 AF XY: 0.0000307 AC XY: 1AN XY: 32589
ClinVar
Submissions by phenotype
Androgen resistance syndrome;C1839259:Kennedy disease Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at