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 computed assertion could be determined for this classification!

Variant: NM_175914.5(HNF4A):c.826+79C>T

CA315411486

447523 (ClinVar)

Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 07bb81bf-e963-4ed1-b682-c2078d43222d
Approved on: 2024-12-02
Published on: 2024-12-02

HGVS expressions

NM_175914.5:c.826+79C>T
NM_175914.5(HNF4A):c.826+79C>T
NC_000020.11:g.44419955C>T
CM000682.2:g.44419955C>T
NC_000020.10:g.43048595C>T
CM000682.1:g.43048595C>T
NC_000020.9:g.42482009C>T
NG_009818.1:g.69155C>T
ENST00000316673.9:c.826+79C>T
ENST00000316099.10:c.892+79C>T
ENST00000619550.5:c.866+79C>T
ENST00000683148.1:n.868+79C>T
ENST00000683657.1:n.2095C>T
ENST00000316099.9:c.892+79C>T
ENST00000316099.8:c.892+79C>T
ENST00000316673.8:c.826+79C>T
ENST00000372920.1:c.*659+79C>T
ENST00000415691.2:c.892+79C>T
ENST00000443598.6:c.892+79C>T
ENST00000457232.5:c.826+79C>T
ENST00000609795.5:c.826+79C>T
ENST00000619550.4:c.817+79C>T
NM_000457.4:c.892+79C>T
NM_001030003.2:c.826+79C>T
NM_001030004.2:c.826+79C>T
NM_001258355.1:c.871+79C>T
NM_001287182.1:c.817+79C>T
NM_001287183.1:c.817+79C>T
NM_001287184.1:c.817+79C>T
NM_175914.4:c.826+79C>T
NM_178849.2:c.892+79C>T
NM_178850.2:c.892+79C>T
NM_001030003.3:c.826+79C>T
NM_001030004.3:c.826+79C>T
NM_001258355.2:c.871+79C>T
NM_001287182.2:c.817+79C>T
NM_001287184.2:c.817+79C>T
NM_178849.3:c.892+79C>T
NM_178850.3:c.892+79C>T
NM_000457.5:c.892+79C>T
NM_000457.6:c.892+79C>T
NM_001287183.2:c.817+79C>T
More

Likely Benign

Met criteria codes 2
BS1 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.826+79C>T variant in the hepatocyte nuclear factor 4-alpha gene, HNF4A, is a single nucleotide variant within intron 7 of NM_175914.5 . The computational splicing predictor SpliceAI gives a score of 0.00 for donor loss, suggesting that the variant has no impact on splicing (BP4). This variant is not covered in gnomAD v2.1.1 exomes and has a Grpmax Filtering allele frequency of 0.000068 in gnomAD v3.1.2, which is greater than the MDEP threshold for BS1 (greater than or equal to 0.000033)(BS1). In summary, c.826+79C>T meets the criteria to be classified as likely benign for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 2.0.0, approved 10/11/2023): BS1, BP4.
Met criteria codes
BS1
This variant is not covered in gnomAD v2.1.1 exomes and has a Grpmax Filtering allele frequency of 0.000068 in gnomAD v3.1.2, which is greater than the MDEP threshold for BS1 (greater than or equal to 0.000033) (BS1).
BP4
The computational splicing predictor SpliceAI gives a score of 0.00 for donor loss, suggesting that the variant has no impact on splicing (BP4).
Curation History
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