Evidence Repository
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_001386306.1:c.265_266delinsGC

CA2573051124

Gene: SERPINC1
Condition: antithrombin III deficiency
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: cc53a0c3-d3a0-486d-bffa-75c85784b784

HGVS expressions

NM_001386306.1:c.265_266delinsGC
NC_000001.11:g.173914695_173914696delinsGC
CM000663.2:g.173914695_173914696delinsGC
NC_000001.10:g.173883833_173883834delinsGC
CM000663.1:g.173883833_173883834delinsGC
NC_000001.9:g.172150456_172150457delinsGC
NG_012462.1:g.7683_7684delinsGC
ENST00000367698.4:c.265_266delinsGC
ENST00000367698.3:c.265_266delinsGC
ENST00000494024.1:n.491_492delinsGC
ENST00000617423.4:c.265_266delinsGC
NM_000488.3:c.265_266delinsGC
NM_001365052.1:c.121_122delinsGC
NM_000488.4:c.265_266delinsGC
NM_001365052.2:c.121_122delinsGC
NM_001386302.1:c.265_266delinsGC
NM_001386303.1:c.346_347delinsGC
NM_001386304.1:c.265_266delinsGC
NM_001386305.1:c.265_266delinsGC

Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 1
PS4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Thrombosis VCEP
The NM_000488.4(SERPINC1):c.265_266delinsGC variant predicts a missense variant at position 89 from Arginine to Alanine. No patients with AT deficiency and the Arg89Ala variant have been described in the literature, to the best of our knowledge. This variant is completely absent from gnomAD v2.1.1 and v3.1.2. In summary, based on the evidence available at this time, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: PM2_Supporting.
Met criteria codes
PM2_Supporting
The c.265_266delinsGC (p.Arg89Ala) variant is completely absent from gnomAD v2.1.1 and v3.1.2
Not Met criteria codes
PS4
No patients with AT deficiency and the Arg89Ala variant has not been described in the literature, to the best of our knowledge.
Approved on: 2024-01-25
Published on: 2024-01-25
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