ClinVar Miner

Submissions for variant NC_000008.11:g.11573132C>T

gnomAD frequency: 0.06287  dbSNP: rs61199332
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
H3Africa Consortium RCV001777135 SCV002014662 benign not specified 2020-10-28 criteria provided, single submitter research 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.
PreventionGenetics, part of Exact Sciences RCV003914831 SCV004734173 benign BLK-related condition 2020-10-12 criteria provided, single submitter clinical testing 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).
OMIM RCV000013114 SCV000033361 pathogenic Maturity-onset diabetes of the young type 11 2009-08-25 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000013114 SCV001142379 benign Maturity-onset diabetes of the young type 11 2020-01-06 no assertion criteria provided curation 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.

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