13-109783567-G-C
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The ENST00000375856.5(IRS2):āc.2487C>Gā(p.Pro829=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000387 in 1,549,134 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P829P) has been classified as Benign.
Frequency
Consequence
ENST00000375856.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IRS2 | NM_003749.3 | c.2487C>G | p.Pro829= | synonymous_variant | 1/2 | ENST00000375856.5 | NP_003740.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IRS2 | ENST00000375856.5 | c.2487C>G | p.Pro829= | synonymous_variant | 1/2 | 1 | NM_003749.3 | ENSP00000365016 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000698 AC: 1AN: 143350Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 77582
GnomAD4 exome AF: 0.00000358 AC: 5AN: 1397108Hom.: 0 Cov.: 77 AF XY: 0.00000290 AC XY: 2AN XY: 689006
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74234
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at