The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
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Variant: NM_175914.5(HNF4A):c.763C>G (p.Gln255Glu)

CA409107507

437910 (ClinVar)

Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 1185e760-0313-42b8-ab26-913011d96308
Approved on: 2024-08-30
Published on: 2024-08-30

HGVS expressions

NM_175914.5:c.763C>G
NM_175914.5(HNF4A):c.763C>G (p.Gln255Glu)
NC_000020.11:g.44419813C>G
CM000682.2:g.44419813C>G
NC_000020.10:g.43048453C>G
CM000682.1:g.43048453C>G
NC_000020.9:g.42481867C>G
NG_009818.1:g.69013C>G
ENST00000316673.9:c.763C>G
ENST00000316099.10:c.829C>G
ENST00000619550.5:c.803C>G
ENST00000683148.1:n.805C>G
ENST00000683657.1:n.1953C>G
ENST00000316099.9:c.829C>G
ENST00000316099.8:c.829C>G
ENST00000316673.8:c.763C>G
ENST00000372920.1:c.*596C>G
ENST00000415691.2:c.829C>G
ENST00000443598.6:c.829C>G
ENST00000457232.5:c.763C>G
ENST00000609795.5:c.763C>G
ENST00000619550.4:c.754C>G
NM_000457.4:c.829C>G
NM_001030003.2:c.763C>G
NM_001030004.2:c.763C>G
NM_001258355.1:c.808C>G
NM_001287182.1:c.754C>G
NM_001287183.1:c.754C>G
NM_001287184.1:c.754C>G
NM_175914.4:c.763C>G
NM_178849.2:c.829C>G
NM_178850.2:c.829C>G
NM_001030003.3:c.763C>G
NM_001030004.3:c.763C>G
NM_001258355.2:c.808C>G
NM_001287182.2:c.754C>G
NM_001287184.2:c.754C>G
NM_178849.3:c.829C>G
NM_178850.3:c.829C>G
NM_000457.5:c.829C>G
NM_000457.6:c.829C>G
NM_001287183.2:c.754C>G
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Uncertain Significance

Met criteria codes 2
PP3 PM2_Supporting
Not Met criteria codes 1
PP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 2.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Monogenic Diabetes VCEP
The c.763C>G variant in the hepatocyte nuclear factor 4-alpha gene, HNF4A, causes an amino acid change of glutamine to glutamate at codon 255 (p.(Gln255Glu)) of NM_175914.5. This variant is absent in gnomAD v2.1.1 (PM2_Supporting) and is predicted to be deleterious by computational evidence, with a REVEL score of 0.73, which is greater than the MDEP VCEP threshold of 0.70 (PP3). This variant was identified in an individual with diabetes; however, the MODY probability is unable to be calculated due to a lack of clinical information (ClinVar ID: 437910). In summary, c.763C>G meets the criteria to be classified as uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 2.0.0, approved 10/11/2023): PP3, PM2_Supporting.
Met criteria codes
PP3
This variant is predicted to be deleterious by computational evidence, with a REVEL score of 0.73, which is greater than the MDEP VCEP threshold of 0.70 (PP3).
PM2_Supporting
This variant is absent from gnomAD v2.1.1 (PM2_Supporting). gnomAD v4.1.0, absent
Not Met criteria codes
PP4
This variant was identified in an individual with diabetes; however, the MODY probability is unable to be calculated due to a lack of clinical information (ClinVar ID: 437910).
Curation History
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