X-67546514-TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC-TGGCGGCGGCGGCGGCGGC
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_000044.6(AR):c.1397_1420delGCGGCGGCGGCGGCGGCGGCGGCG(p.Gly466_Gly473del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00268 in 559,009 control chromosomes in the GnomAD database, including 125 homozygotes. There are 397 hemizygotes in GnomAD. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000044.6 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.1397_1420delGCGGCGGCGGCGGCGGCGGCGGCG | p.Gly466_Gly473del | disruptive_inframe_deletion | Exon 1 of 8 | ENST00000374690.9 | NP_000035.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00293 AC: 243AN: 83052Hom.: 2 Cov.: 0 AF XY: 0.00259 AC XY: 43AN XY: 16616
GnomAD3 exomes AF: 0.00532 AC: 200AN: 37570Hom.: 64 AF XY: 0.00339 AC XY: 44AN XY: 12980
GnomAD4 exome AF: 0.00263 AC: 1253AN: 475953Hom.: 123 AF XY: 0.00299 AC XY: 353AN XY: 118113
GnomAD4 genome AF: 0.00293 AC: 243AN: 83056Hom.: 2 Cov.: 0 AF XY: 0.00265 AC XY: 44AN XY: 16626
ClinVar
Submissions by phenotype
Androgen resistance syndrome;C1839259:Kennedy disease Benign:1
- -
AR-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at