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.224+17dup

CA9870185

338425 (ClinVar)

Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 59c51b04-a2a6-4eaf-a96f-36ca7443b1e2
Approved on: 2023-05-27
Published on: 2023-05-27

HGVS expressions

NM_175914.5:c.224+17dup
NM_175914.5(HNF4A):c.224+17dup
NC_000020.11:g.44406249dup
CM000682.2:g.44406249dup
NC_000020.10:g.43034889dup
CM000682.1:g.43034889dup
NC_000020.9:g.42468303dup
NG_009818.1:g.55449dup
ENST00000316099.10:c.290+17dup
ENST00000619550.5:n.264+17dup
ENST00000681977.1:n.266+17dup
ENST00000682169.1:n.243+17dup
ENST00000683148.1:n.266+17dup
ENST00000683657.1:n.283dup
ENST00000684046.1:n.266+17dup
ENST00000684136.1:n.266+17dup
ENST00000684476.1:n.247+17dup
ENST00000316099.9:c.290+17dup
ENST00000316099.8:c.290+17dup
ENST00000316673.8:c.224+17dup
ENST00000372920.1:c.*57+17dup
ENST00000415691.2:c.290+17dup
ENST00000443598.6:c.290+17dup
ENST00000457232.5:c.224+17dup
ENST00000609262.5:c.215+17dup
ENST00000609795.5:c.224+17dup
ENST00000619550.4:c.215+17dup
NM_000457.4:c.290+17dup
NM_001030003.2:c.224+17dup
NM_001030004.2:c.224+17dup
NM_001258355.1:c.269+17dup
NM_001287182.1:c.215+17dup
NM_001287183.1:c.215+17dup
NM_001287184.1:c.215+17dup
NM_175914.4:c.224+17dup
NM_178849.2:c.290+17dup
NM_178850.2:c.290+17dup
NM_001030003.3:c.224+17dup
NM_001030004.3:c.224+17dup
NM_001258355.2:c.269+17dup
NM_001287182.2:c.215+17dup
NM_001287184.2:c.215+17dup
NM_178849.3:c.290+17dup
NM_178850.3:c.290+17dup
NM_000457.5:c.290+17dup
NM_000457.6:c.290+17dup
NM_001287183.2:c.215+17dup
More

Benign

Met criteria codes 3
BP5 BP4 BA1
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 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Monogenic Diabetes VCEP
The c.224+17dupT variant in the HNF4 homeobox A gene, HNF4A has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.0008603, which is greater than the MDEP threshold for BA1 (0.0001) (BA1). The computational splicing predictor SpliceAI gives a score of 0.0 for donor gain, suggesting that the variant has no impact on splicing (BP4). This variant was identified in an individual with diabetes; however, the calculated MODY probability is <50%, and PP4 is not met (internal lab contributors). This variant was also identified in a patient with an alternate molecular basis for disease (BP5; internal lab contributors). In summary, c.224+17dupT meets the criteria to be classified as benign for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.0, approved 11/16/2022): BA1, BP4, BP5.
Met criteria codes
BP5
This variant was also identified in a patient with an alternate molecular basis for disease (BP5; internal lab contributors).
BP4
The computational splicing predictor SpliceAI gives a score of 0.0 for donor gain, suggesting that the variant has no impact on splicing (BP4).
BA1
This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.0008603, which is greater than the MDEP threshold for BA1 (0.0001) (BA1).
Not Met criteria codes
PP4
This variant was identified in an individual with diabetes; however, the calculated MODY probability is <50% (internal lab contributors).
Curation History
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