Evidence Repository
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
  • No CSPEC computer assertion could be determined for this classification!

Variant: NM_175914.5(HNF4A):c.670+18C>A

CA10587354

262915 (ClinVar)

Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: cf60e993-5316-4e06-8697-dac423892354
Approved on: 2024-08-01
Published on: 2024-08-02

HGVS expressions

NM_175914.5:c.670+18C>A
NM_175914.5(HNF4A):c.670+18C>A
NC_000020.11:g.44418530C>A
CM000682.2:g.44418530C>A
NC_000020.10:g.43047170C>A
CM000682.1:g.43047170C>A
NC_000020.9:g.42480584C>A
NG_009818.1:g.67730C>A
ENST00000316673.9:c.670+18C>A
ENST00000316099.10:c.736+18C>A
ENST00000619550.5:c.710+18C>A
ENST00000683148.1:n.712+18C>A
ENST00000683657.1:n.1860+18C>A
ENST00000316099.9:c.736+18C>A
ENST00000316099.8:c.736+18C>A
ENST00000316673.8:c.670+18C>A
ENST00000372920.1:c.*503+18C>A
ENST00000415691.2:c.736+18C>A
ENST00000443598.6:c.736+18C>A
ENST00000457232.5:c.670+18C>A
ENST00000609795.5:c.670+18C>A
ENST00000619550.4:c.661+18C>A
NM_000457.4:c.736+18C>A
NM_001030003.2:c.670+18C>A
NM_001030004.2:c.670+18C>A
NM_001258355.1:c.715+18C>A
NM_001287182.1:c.661+18C>A
NM_001287183.1:c.661+18C>A
NM_001287184.1:c.661+18C>A
NM_175914.4:c.670+18C>A
NM_178849.2:c.736+18C>A
NM_178850.2:c.736+18C>A
NM_001030003.3:c.670+18C>A
NM_001030004.3:c.670+18C>A
NM_001258355.2:c.715+18C>A
NM_001287182.2:c.661+18C>A
NM_001287184.2:c.661+18C>A
NM_178849.3:c.736+18C>A
NM_178850.3:c.736+18C>A
NM_000457.5:c.736+18C>A
NM_000457.6:c.736+18C>A
NM_001287183.2:c.661+18C>A
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Uncertain Significance

Met criteria codes 2
PM2_Supporting BP4

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.670+18C>A variant in the hepatocyte nuclear factor 4 alpha gene, HNF4A, is a single nucleotide variant within intron 6 of NM_175914.5. This variant is absent in gnomAD v2.1.1 (PM2_Supporting). However, the computational splicing predictor SpliceAI gives a score of 0.00 for donor loss, suggesting that this variant has no impact on splicing (BP4). In summary, c.670+18C>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 (specification version 2.0.0, approved 10/11/2023): PM2_Supporting, BP4.
Met criteria codes
PM2_Supporting
This variant is absent in gnomAD v2.1.1 (PM2_Supporting).
BP4
The computational splicing predictor SpliceAI gives a score of 0.00 for acceptor and donor loss, suggesting that this variant has no impact on splicing (BP4).
Curation History
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