Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

CA6831859

Gene: HNF1A

Condition: monogenic diabetes

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 52f3819f-30d0-43ef-9dae-cff20cb198cb

HGVS expressions

NM_001306179.2:c.872C>T

NC_000012.12:g.120994322C>T

CM000674.2:g.120994322C>T

NC_000012.11:g.121432125C>T

CM000674.1:g.121432125C>T

NC_000012.10:g.119916508C>T

NG_011731.2:g.20577C>T

ENST00000257555.11:c.872C>T

ENST00000257555.10:c.872C>T

ENST00000400024.6:c.872C>T

ENST00000402929.5:n.1007C>T

ENST00000535955.5:n.43-3169C>T

ENST00000538626.2:n.191-3169C>T

ENST00000538646.5:c.685C>T

ENST00000540108.1:c.*312C>T

ENST00000541395.5:c.872C>T

ENST00000541924.5:c.713+616C>T

ENST00000543427.5:c.633+696C>T

ENST00000544413.2:c.872C>T

ENST00000544574.5:c.73-2295C>T

ENST00000560968.5:n.893+122C>T

ENST00000615446.4:c.-257-1940C>T

ENST00000617366.4:c.586+743C>T

NM_000545.5:c.872C>T

NM_000545.6:c.872C>T

NM_001306179.1:c.872C>T

NM_000545.8:c.872C>T

Uncertain Significance

BS1

Evidence Links 0

Expert Panel

Monogenic Diabetes VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Monogenic Diabetes VCEP

The c.872C>T variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of proline to leucine at codon 291 (p.(Pro291Leu)) of NM_000545.8. This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.00003680, which is greater than the MDEP threshold for BS1 (≥0.000033) (BS1). In summary, c.872C>T meets the criteria to be classified as a variant of uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.1, approved 9/30/21): BS1.

BS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Approved on: 2022-04-15

Published on: 2022-04-15

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