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]

Variant: NM_000545.8(HNF1A):c.-6C>T

Curation Version - 1.1
Curation History
JSON LD for Version 1.1

CA6831648

307454 (ClinVar)

Gene: HNF1A

Condition: monogenic diabetes

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: df141907-2286-41e0-855a-0951fe1419e3

Approved on: 2022-03-04

Published on: 2022-07-11

HGVS expressions

NM_000545.8:c.-6C>T

NM_000545.8(HNF1A):c.-6C>T

NC_000012.12:g.120978763C>T

CM000674.2:g.120978763C>T

NC_000012.11:g.121416566C>T

CM000674.1:g.121416566C>T

NC_000012.10:g.119900949C>T

NG_011731.2:g.5018C>T

ENST00000257555.11:c.-6C>T

ENST00000257555.10:c.-6C>T

ENST00000400024.6:c.-6C>T

ENST00000402929.5:n.130C>T

ENST00000535955.5:n.42+71C>T

ENST00000538626.2:n.113C>T

ENST00000538646.5:c.-6C>T

ENST00000540108.1:c.-6C>T

ENST00000541395.5:c.-6C>T

ENST00000541924.5:c.-6C>T

ENST00000543427.5:c.-6C>T

ENST00000544413.2:c.-6C>T

ENST00000544574.5:c.-6C>T

ENST00000560968.5:n.138C>T

ENST00000615446.4:c.-258+52C>T

ENST00000617366.4:c.-6C>T

NM_000545.5:c.-6C>T

NM_000545.6:c.-6C>T

NM_001306179.1:c.-6C>T

NM_001306179.2:c.-6C>T

Uncertain Significance

BS1

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

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Monogenic Diabetes VCEP

The c.-6C>T variant in the HNF1 homeobox A gene, HNF1A, is a single nucleotide variant within the 5'UTR of NM_000545.8. This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.00007572, which is greater than the MDEP threshold for BS1 (≥0.000033) (BS1). In summary, c.-6C>T meets the criteria to be classified as uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.1, approved 9/30/2021): BS1.

BS1

This variant has a gnomAD exome Popmax filtering AF ≥ 0.000033 (actual value 0.00007572).

Curation History

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