chr8-11573132-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The variant allele was found at a frequency of 0.0602 in 152,304 control chromosomes in the GnomAD database, including 563 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.0600 AC: 9134AN: 152186Hom.: 555 Cov.: 33
GnomAD4 genome AF: 0.0602 AC: 9168AN: 152304Hom.: 563 Cov.: 33 AF XY: 0.0591 AC XY: 4402AN XY: 74478
ClinVar
Submissions by phenotype
Maturity-onset diabetes of the young type 11 Pathogenic:1Benign:1
NC_000008.11:g.11573132C>T has an allele frequency of 0.163 in African subpopulation in the gnomAD database, including 128 homozygous occurrences. This variant was annotated at the position 11,468,050 on chromsome 8. In the functional study by MIN6 beta-cells, this variant decreased luciferase expression as compared with control constructs without any insert (PMID: 19667185). This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2, PS3. -
- -
not specified Benign:1
While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.146, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. -
BLK-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