rs12853546
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_003749.3(IRS2):c.2487C>T(p.Pro829Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.245 in 1,549,162 control chromosomes in the GnomAD database, including 47,398 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_003749.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.228 AC: 34661AN: 151992Hom.: 4037 Cov.: 34
GnomAD3 exomes AF: 0.236 AC: 33798AN: 143350Hom.: 4221 AF XY: 0.242 AC XY: 18810AN XY: 77582
GnomAD4 exome AF: 0.246 AC: 344112AN: 1397052Hom.: 43363 Cov.: 77 AF XY: 0.248 AC XY: 170615AN XY: 688968
GnomAD4 genome AF: 0.228 AC: 34668AN: 152110Hom.: 4035 Cov.: 34 AF XY: 0.228 AC XY: 16917AN XY: 74336
ClinVar
Submissions by phenotype
IRS2-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