Evidence Repository - GenboreeKB

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

Variant: NM_175914.5(HNF4A):c.*4G>A

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA213920

36346 (ClinVar)

Gene: HNF4A

Condition: monogenic diabetes

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 4c0c032e-d7a2-4806-89d7-a4c1b0227616

Approved on: 2024-01-22

Published on: 2024-01-22

HGVS expressions

NM_175914.5:c.*4G>A

NM_175914.5(HNF4A):c.*4G>A

NC_000020.11:g.44429669G>A

CM000682.2:g.44429669G>A

NC_000020.10:g.43058309G>A

CM000682.1:g.43058309G>A

NC_000020.9:g.42491723G>A

NG_009818.1:g.78869G>A

ENST00000316673.9:c.*4G>A

ENST00000316099.10:c.*4G>A

ENST00000316099.9:c.*4G>A

ENST00000316099.8:c.*4G>A

ENST00000316673.8:c.*4G>A

ENST00000372920.1:c.*1196G>A

ENST00000415691.2:c.*4G>A

ENST00000457232.5:c.*4G>A

ENST00000619550.4:c.*4G>A

NM_000457.4:c.*4G>A

NM_001030003.2:c.*4G>A

NM_001258355.1:c.*4G>A

NM_001287182.1:c.*4G>A

NM_001287183.1:c.*4G>A

NM_175914.4:c.*4G>A

NM_178849.2:c.*4G>A

NM_001030003.3:c.*4G>A

NM_001258355.2:c.*4G>A

NM_001287182.2:c.*4G>A

NM_178849.3:c.*4G>A

NM_000457.5:c.*4G>A

NM_000457.6:c.*4G>A

NM_001287183.2:c.*4G>A

Uncertain Significance

BS1

PP4

Evidence Links 0

Expert Panel

Monogenic Diabetes VCEP

Criteria Specification Information

Criteria Specification: ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Monogenic Diabetes VCEP

The c.*4G>A variant in the hepatocyte nuclear factor 4 alpha gene, HNF4A is located in the 3'-UTR of the NM_175914.5. This variant has a Grpmax Filtering allele frequency in gnomAD 2.1.1 of 0.000048, which is greater than the MDEP threshold for BS1 (0.000033) (BS1). This variant was identified in an individual with diabetes; however, the calculated MODY probability is <50% (internal lab contributor). In summary, c.*4G>A 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 VCEP (specification version 2.0.0, approved 10/11/2023): BS1.

BS1

This variant has a Grpmax Filtering allele frequency in gnomAD 2.1.1 of 0.000048, which is greater than the MDEP threshold for BS1 (0.000033) (BS1).

PP4

This variant was identified in an individual with diabetes; however, the calculated MODY probability is <50% (internal lab contributor).

Curation History

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