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:c.473_475del

CA645373276

435437 (ClinVar)

Gene: HNF4A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 37075a88-aa7b-4fbc-b44b-1ead9352dd41
Approved on: 2024-05-09
Published on: 2024-05-09

HGVS expressions

NM_175914.5:c.473_475del
NC_000020.11:g.44414553_44414555del
CM000682.2:g.44414553_44414555del
NC_000020.10:g.43043193_43043195del
CM000682.1:g.43043193_43043195del
NC_000020.9:g.42476607_42476609del
NG_009818.1:g.63753_63755del
ENST00000316673.9:c.473_475del
ENST00000316099.10:c.539_541del
ENST00000619550.5:c.513_515del
ENST00000683148.1:n.515_517del
ENST00000683657.1:n.1663_1665del
ENST00000316099.9:c.539_541del
ENST00000316099.8:c.539_541del
ENST00000316673.8:c.473_475del
ENST00000372920.1:c.*306_*308del
ENST00000415691.2:c.539_541del
ENST00000443598.6:c.539_541del
ENST00000457232.5:c.473_475del
ENST00000609795.5:c.473_475del
ENST00000619550.4:c.464_466del
NM_000457.4:c.539_541del
NM_001030003.2:c.473_475del
NM_001030004.2:c.473_475del
NM_001258355.1:c.518_520del
NM_001287182.1:c.464_466del
NM_001287183.1:c.464_466del
NM_001287184.1:c.464_466del
NM_175914.4:c.473_475del
NM_178849.2:c.539_541del
NM_178850.2:c.539_541del
NM_001030003.3:c.473_475del
NM_001030004.3:c.473_475del
NM_001258355.2:c.518_520del
NM_001287182.2:c.464_466del
NM_001287184.2:c.464_466del
NM_178849.3:c.539_541del
NM_178850.3:c.539_541del
NM_000457.5:c.539_541del
NM_000457.6:c.539_541del
NM_001287183.2:c.464_466del
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Uncertain Significance

Met criteria codes 2
PM4_Supporting PM2_Supporting

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.473_475del variant in the hepatocyte nuclear factor 4-alpha gene, HNF4A, is a three base pair deletion resulting in the in-frame deletion of one amino acid at codon 158 (p.(Lys158del)) within exon 5 of NM_174914.5. The c.473_475del variant is predicted to change the length of the protein due to an in-frame deletion of a single amino acid in a nonrepeat region (PM4_Supporting). Additionally, this variant is absent in gnomAD v2.1.1 (PM2_Supporting). In summary, c.473_475del 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, PM4_Supporting.
Met criteria codes
PM4_Supporting
The c.473_475del variant is predicted to change the length of the protein due to an in-frame deletion of a single amino acid in a nonrepeat region (PM4_Supporting).
PM2_Supporting
This variant is absent in gnomAD v2.1.1 (PM2_Supporting).
Curation History
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