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_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA343771985

627231 (ClinVar)

Gene: SERPINC1

Condition: antithrombin III deficiency

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 3d112ba6-fdde-4ae1-a374-956c2199e1e9

Approved on: 2025-02-21

Published on: 2025-02-21

HGVS expressions

NM_000488.4:c.1393T>C

NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln)

NC_000001.11:g.173903891A>G

CM000663.2:g.173903891A>G

NC_000001.10:g.173873029A>G

CM000663.1:g.173873029A>G

NC_000001.9:g.172139652A>G

NG_012462.1:g.18488T>C

ENST00000367698.4:c.1393T>C

ENST00000367698.3:c.1393T>C

ENST00000617423.4:c.778T>C

NM_000488.3:c.1393T>C

NM_001365052.1:c.1249T>C

NM_001365052.2:c.1249T>C

NM_001386302.1:c.1516T>C

NM_001386303.1:c.1474T>C

NM_001386304.1:c.1372T>C

NM_001386305.1:c.1336T>C

NM_001386306.1:c.1177T>C

Uncertain Significance

PM2_Supporting PM4

PP3

Evidence Links 0

Expert Panel

Thrombosis VCEP

Criteria Specification Information

Criteria Specification: ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Thrombosis VCEP

The c.1393T>C variant is predicted to cause a change in the length of the protein (p.Ter465Gln) due to being a stop-loss variant in a non-repeat region (PM4). This variant is absent from gnomAD v2.1.1, v3.1.2 and v4.1.0 (PM2_Supporting). In summary, this variant meets the criteria to be classified as uncertain significance due to insufficient evidence for autosomal dominant hereditary antithrombin deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Thrombosis VCEP: PM4, PM2_Supporting. ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0; 2/21/25.

PM2_Supporting

This variant is absent from gnomAD v2.1.1, v3.1.2, v4.1.0 (PM2_Supporting)

PM4

The c.1393T>C variant is predicted to cause a change in the length of the protein (p.Ter465Gln) due to being a stop-loss variant in a non-repeat region (PM4).

PP3

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.