Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_000545.8(HNF1A):c.327-14T>C

CA10640432

307458 (ClinVar)

Gene: HNF1A

Condition: monogenic diabetes

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 843c9b74-fd62-4453-a09a-d580a32be1a8

HGVS expressions

NM_000545.8:c.327-14T>C

NM_000545.8(HNF1A):c.327-14T>C

NC_000012.12:g.120988819T>C

CM000674.2:g.120988819T>C

NC_000012.11:g.121426622T>C

CM000674.1:g.121426622T>C

NC_000012.10:g.119911005T>C

NG_011731.2:g.15074T>C

ENST00000257555.11:c.327-14T>C

ENST00000257555.10:c.327-14T>C

ENST00000400024.6:c.327-14T>C

ENST00000402929.5:n.462-14T>C

ENST00000535955.5:n.43-8672T>C

ENST00000538626.2:n.191-8672T>C

ENST00000538646.5:c.327-14T>C

ENST00000540108.1:c.327-4701T>C

ENST00000541395.5:c.327-14T>C

ENST00000541924.5:c.327-14T>C

ENST00000543427.5:c.327-14T>C

ENST00000544413.2:c.327-14T>C

ENST00000544574.5:c.73-7798T>C

ENST00000560968.5:n.470-14T>C

ENST00000615446.4:c.-257-7443T>C

ENST00000617366.4:c.327-14T>C

NM_000545.5:c.327-14T>C

NM_000545.6:c.327-14T>C

NM_001306179.1:c.327-14T>C

NM_001306179.2:c.327-14T>C

Uncertain Significance

BP4 PM2_Supporting

Evidence Links 0

Expert Panel

Monogenic Diabetes VCEP

Criteria Specification Information

Criteria Specification: ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Monogenic Diabetes VCEP

The c.327-14T>C variant in the HNF1 homeobox A gene, HNF1A, is a single nucleotide variant within intron 1 of NM_000545.8. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). Also, the computational splicing predictor SpliceAI gives a score of 0.00 for acceptor loss, suggesting that the variant has no impact on splicing (BP4). In summary, c.327-14T>C 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 1.1, approved 9/30/2021): PM2_Supporting, BP4.

BP4

The computational splicing predictor SpliceAI gives a score of 0.00 for acceptor loss, suggesting that the variant has no impact on splicing.

PM2_Supporting

This variant is absent from gnomAD.

Approved on: 2022-04-08

Published on: 2022-07-12

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