rs6259
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001040.5(SHBG):c.1066G>A(p.Asp356Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.107 in 1,613,714 control chromosomes in the GnomAD database, including 10,370 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001040.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0813 AC: 12373AN: 152098Hom.: 651 Cov.: 32
GnomAD3 exomes AF: 0.0891 AC: 22407AN: 251470Hom.: 1246 AF XY: 0.0888 AC XY: 12066AN XY: 135910
GnomAD4 exome AF: 0.110 AC: 161088AN: 1461498Hom.: 9718 Cov.: 33 AF XY: 0.107 AC XY: 78077AN XY: 727082
GnomAD4 genome AF: 0.0813 AC: 12368AN: 152216Hom.: 652 Cov.: 32 AF XY: 0.0782 AC XY: 5816AN XY: 74418
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 10424400, 19649728, 20974254, 23305451, 19168589, 17315164, 19679209, 21454829) -
SHBG-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