Table 3.

AR Allelic Variants

Variant ClassificationDNA Nucleotide ChangePredicted Protein ChangeReference Sequences
Benignc.172_174(7_37) 1p.Gln58(7_37) 2NM_000044​.3
NP_000035​.2
(GGT)3GGG(GGT)2-4GGC(n), where n=12-29 3, 4, 5(polyglycine tract) 3
1754G>A 4, 6p.= 7
Pathogenic172_174[>37] 4, 8, 9, 10Gln58(>37) 4, 11

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Trinucleotide repeat tract (CAG)n with a variable stretch of n=7-37 in the population starting at position 172 from the initiation AUG or 1287 from the beginning of the NM_000044​.3 transcript

2.

A stretch of glutamines (Gln) starting at amino acid residue 58 which is found with a variable length from 7-17 in the population

3.

Complex trinucleotide repeat beginning at position 2466 from the beginning of the NM_000044​.3 transcript that encodes a variable polyglycine tract [Lumbroso et al 1997]

4.

Nomenclature given is an alias (i.e., a variant designation that does not conform to current naming conventions) in common use.

5.

Standard nomenclature per ClinVar: c.1363GGT(2_4)GGC(12_29)

6.

A silent 1754G>A variant in the coding region (at the third position of codon 213 in exon 1) is referred to as 709G>A in Hiort et al [1994], 995G>A in Batch et al [1992], and 1152G>A in Chang et al [1988].

7.

p.= designates that protein has not been analyzed, but no change is expected.

8.

Trinucleotide repeat tract (CAG)n with a variable stretch of n>-37 in the population starting at position 172 from the initiation AUG or 1287 from the beginning of the NM_000044​.3 transcript

9.

Pathogenic allelic variant associated with SBMA

10.

Standard nomenclature per ClinVar: c.172_174(38_?)

11.

Standard nomenclature per ClinVar: p.Gln58(38_?)

From: Androgen Insensitivity Syndrome

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