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.1154-53G>A

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10960823

1279654 (ClinVar)

Gene: SERPINC1

Condition: antithrombin III deficiency

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: fc345533-efb9-4fd1-9c6f-446956feb6cd

Approved on: 2023-07-25

Published on: 2023-09-29

HGVS expressions

NM_000488.4:c.1154-53G>A

NM_000488.4(SERPINC1):c.1154-53G>A

NC_000001.11:g.173907567C>T

CM000663.2:g.173907567C>T

NC_000001.10:g.173876705C>T

CM000663.1:g.173876705C>T

NC_000001.9:g.172143328C>T

NG_012462.1:g.14812G>A

ENST00000367698.4:c.1154-53G>A

ENST00000367698.3:c.1154-53G>A

ENST00000617423.4:c.560-74G>A

NM_000488.3:c.1154-53G>A

NM_001365052.1:c.1010-53G>A

NM_001365052.2:c.1010-53G>A

NM_001386302.1:c.1277-53G>A

NM_001386303.1:c.1235-53G>A

NM_001386304.1:c.1133-53G>A

NM_001386305.1:c.1097-53G>A

NM_001386306.1:c.938-53G>A

Benign

BA1 BS2

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 NM_000488.4:c.1154-53G>A variant is reported at a popmax FAF of 0.3028 and the highest MAF of 0.3263 (32%; 507/1554 alleles with 81 homozygotes) in the East Asian population in gnomAD v2.1.1, meeting criteria for BA1 (MAF >0.002). The variant is reported in 8 individuals with normal antithrombin levels. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BA1, BS2.

BA1

The variant is reported at a popmax FAF of 0.3028 and the highest MAF of 0.3263 (32%; 507/1554 alleles with 81 homozygotes) in the East Asian population in gnomAD v2.1.1.

BS2

The variant is reported in 11 individuals from internal laboratory data. Eight have antithrombin levels of ≥0.8 IU/mL. Two report VTE but have normal (0.8 IU/mL) or near normal (0.78 IU/mL) antithrombin levels. BS2 is applied based on >2 heterozygotes with normal antithrombin levels.

Curation History

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