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_000545.6(HNF1A):c.225C>T (p.Asp75=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA160001

134505 (ClinVar)

Gene: HNF1A

Condition: monogenic diabetes

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 781e61ba-ac24-4e0a-9dce-e7d2c0b95f24

Approved on: 2021-12-30

Published on: 2021-12-30

HGVS expressions

NM_000545.6:c.225C>T

NM_000545.6(HNF1A):c.225C>T (p.Asp75=)

NC_000012.12:g.120978993C>T

CM000674.2:g.120978993C>T

NC_000012.11:g.121416796C>T

CM000674.1:g.121416796C>T

NC_000012.10:g.119901179C>T

NG_011731.2:g.5248C>T

ENST00000257555.11:c.225C>T

ENST00000257555.10:c.225C>T

ENST00000400024.6:c.225C>T

ENST00000402929.5:n.360C>T

ENST00000535955.5:n.42+301C>T

ENST00000538626.2:n.190+153C>T

ENST00000538646.5:c.225C>T

ENST00000540108.1:c.225C>T

ENST00000541395.5:c.225C>T

ENST00000541924.5:c.225C>T

ENST00000543427.5:c.225C>T

ENST00000544413.2:c.225C>T

ENST00000544574.5:c.72+153C>T

ENST00000560968.5:n.368C>T

ENST00000615446.4:c.-258+282C>T

ENST00000617366.4:c.225C>T

NM_000545.5:c.225C>T

NM_001306179.1:c.225C>T

NM_000545.8:c.225C>T

NM_001306179.2:c.225C>T

NM_000545.8(HNF1A):c.225C>T (p.Asp75=)

Benign

BA1 BP7

Evidence Links 0

Expert Panel

Monogenic Diabetes VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Monogenic Diabetes VCEP

The c.225C>T variant in the HNF1 homeobox A gene, HNF1A, is a synonymous (silent) variant at codon 75 (p.(Asp75=)) of NM_000545.8. This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.0007829, which is greater than or equal to the MDEP VCEP threshold for BA1 (≥0.0001) (BA1). Additionally, the c.225C>T variant is not predicted by SpliceAI to impact splicing (BP7). In summary, c.225C>T meets the criteria to be classified as benign for HNF1A-MODY. ACMG/AMP criteria applied, as specified by the ClinGen MDEP VCEP (specification version 1.1, approved 6/4/2021): BA1, BP7. 

BA1

This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.0007829, which is greater than or equal to the MDEP VCEP threshold for BA1 (≥0.0001) (BA1).

BP7

The c.225C>T variant is not predicted by SpliceAI to impact splicing (BP7).

Curation History

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