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.870C>T (p.Pro290=)

CA16606476

382774 (ClinVar)

Gene: HNF1A

Condition: monogenic diabetes

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 7b10c05d-64d7-41d5-a4cf-6b4434262469

HGVS expressions

NM_000545.8:c.870C>T

NM_000545.8(HNF1A):c.870C>T (p.Pro290=)

NC_000012.12:g.120994320C>T

CM000674.2:g.120994320C>T

NC_000012.11:g.121432123C>T

CM000674.1:g.121432123C>T

NC_000012.10:g.119916506C>T

NG_011731.2:g.20575C>T

ENST00000257555.11:c.870C>T

ENST00000257555.10:c.870C>T

ENST00000400024.6:c.870C>T

ENST00000402929.5:n.1005C>T

ENST00000535955.5:n.43-3171C>T

ENST00000538626.2:n.191-3171C>T

ENST00000538646.5:c.683C>T

ENST00000540108.1:c.*310C>T

ENST00000541395.5:c.870C>T

ENST00000541924.5:c.713+614C>T

ENST00000543427.5:c.633+694C>T

ENST00000544413.2:c.870C>T

ENST00000544574.5:c.73-2297C>T

ENST00000560968.5:n.893+120C>T

ENST00000615446.4:c.-257-1942C>T

ENST00000617366.4:c.586+741C>T

NM_000545.5:c.870C>T

NM_000545.6:c.870C>T

NM_001306179.1:c.870C>T

NM_001306179.2:c.870C>T

Uncertain Significance

PM2_Supporting 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.870C>T variant in the HNF1 homeobox A gene, HNF1A, is a synonymous (silent) variant at codon 290 (p.Pro290=) of NM_000545.8. This synonymous variant is not predicted by SpliceAI to impact splicing (BP7). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, c.870C>T 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): BP7, PM2_Supporting.

PM2_Supporting

gnomAD ENF MAF = 0.000009193 and no copies in other subpopulations

BP7

This synonymous variant is not predicted by SpliceAI to impact splicing.

Approved on: 2022-05-03

Published on: 2022-05-03

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