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]

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Variant: NM_000488.4(SERPINC1):c.42-18C>T

CA1251479

1624905 (ClinVar)

Gene: SERPINC1

Condition: antithrombin III deficiency

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: b74a2083-f68b-40a3-aee4-e92fb345d868

Approved on: 2023-07-25

Published on: 2023-09-29

HGVS expressions

NM_000488.4:c.42-18C>T

NM_000488.4(SERPINC1):c.42-18C>T

NC_000001.11:g.173914937G>A

CM000663.2:g.173914937G>A

NC_000001.10:g.173884075G>A

CM000663.1:g.173884075G>A

NC_000001.9:g.172150698G>A

NG_012462.1:g.7442C>T

ENST00000367698.4:c.42-18C>T

ENST00000367698.3:c.42-18C>T

ENST00000494024.1:n.268-18C>T

ENST00000617423.4:c.42-18C>T

NM_000488.3:c.42-18C>T

NM_001365052.1:c.-103-18C>T

NM_001365052.2:c.-103-18C>T

NM_001386302.1:c.42-18C>T

NM_001386303.1:c.123-18C>T

NM_001386304.1:c.42-18C>T

NM_001386305.1:c.42-18C>T

NM_001386306.1:c.42-18C>T

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.42-18C>T variant is reported at a popmax FAF of 0.0771 and the highest MAF of 0.08248 (8%; 1996/24200 alleles with 85 homozygotes) in the African/African American population in gnomAD v2.1.1, meeting criteria for BA1 (MAF >0.002). The variant is reported in 2 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 0.0771 and the highest MAF of 0.08248 (8%; 1996/24200 alleles with 85 homozygotes) in the African/African American population in gnomAD v2.1.1.

BS2

The variant is reported in 3 individuals from internal laboratory data. 2 have antithrombin levels of ≥0.8 IU/mL. No reports of VTE. BS2 is applied based on >2 heterozygotes with normal antithrombin levels.

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