X-67546514-TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC-TGGCGGCGGCGGCGGCGGCGGCGGCGGC
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_000044.6(AR):c.1406_1420delGCGGCGGCGGCGGCG(p.Gly469_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 0.00802 in 552,271 control chromosomes in the GnomAD database, including 427 homozygotes. There are 995 hemizygotes in GnomAD. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000044.6 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AR | NM_000044.6 | c.1406_1420delGCGGCGGCGGCGGCG | p.Gly469_Gly473del | disruptive_inframe_deletion | Exon 1 of 8 | ENST00000374690.9 | NP_000035.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00903 AC: 750AN: 83037Hom.: 7 Cov.: 0 AF XY: 0.00939 AC XY: 156AN XY: 16605
GnomAD3 exomes AF: 0.0106 AC: 397AN: 37570Hom.: 115 AF XY: 0.00539 AC XY: 70AN XY: 12980
GnomAD4 exome AF: 0.00784 AC: 3678AN: 469230Hom.: 420 AF XY: 0.00725 AC XY: 839AN XY: 115712
GnomAD4 genome AF: 0.00904 AC: 751AN: 83041Hom.: 7 Cov.: 0 AF XY: 0.00939 AC XY: 156AN XY: 16615
ClinVar
Submissions by phenotype
not specified Benign:1
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Androgen resistance syndrome;C1839259:Kennedy disease Benign:1
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not provided Benign:1
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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