ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2117A>G (p.Asn706Ser)

dbSNP: rs925822435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269927 SCV001450292 pathogenic not provided 2015-08-12 criteria provided, single submitter clinical testing
Invitae RCV001860107 SCV002242629 pathogenic Androgen resistance syndrome; Kennedy disease 2021-09-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asn706 amino acid residue in AR. Other variant(s) that disrupt this residue have been observed in individuals with AR-related conditions (PMID: 11744994, 11788645), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 492789). This variant is also known as p.Asn705Ser. This missense change has been observed in individual(s) with X-linked complete androgen insensitivity syndrome (PMID: 1480178, 31012339). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 706 of the AR protein (p.Asn706Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583716 SCV000692154 pathogenic Androgen resistance syndrome 2001-11-16 no assertion criteria provided clinical testing
Human Developmental Genetics, Institut Pasteur RCV000583716 SCV001787098 pathogenic Androgen resistance syndrome 2021-08-17 no assertion criteria provided research

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