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_000488.4(SERPINC1):c.1219-8A>G

CA2580061384

1954374 (ClinVar)

Gene: SERPINC1

Condition: antithrombin III deficiency

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: eb7efaea-4cce-4961-a6d3-7caf807fc388

HGVS expressions

NM_000488.4:c.1219-8A>G

NM_000488.4(SERPINC1):c.1219-8A>G

NC_000001.11:g.173904073T>C

CM000663.2:g.173904073T>C

NC_000001.10:g.173873211T>C

CM000663.1:g.173873211T>C

NC_000001.9:g.172139834T>C

NG_012462.1:g.18306A>G

ENST00000367698.4:c.1219-8A>G

ENST00000367698.3:c.1219-8A>G

ENST00000617423.4:c.604-8A>G

NM_000488.3:c.1219-8A>G

NM_001365052.1:c.1075-8A>G

NM_001365052.2:c.1075-8A>G

NM_001386302.1:c.1342-8A>G

NM_001386303.1:c.1300-8A>G

NM_001386304.1:c.1198-8A>G

NM_001386305.1:c.1162-8A>G

NM_001386306.1:c.1003-8A>G

Uncertain Significance

PM2 BP7 BP4

Evidence Links 0

Expert Panel

Thrombosis VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Thrombosis VCEP

The c.1219-8A>G (NM_000488.4) variant in SERPINC1 does not code for protein sequence. SpliceAI predicts no splicing impact for this variant meeting BP4. The variant is not predicted to cause a splicing impact and the nucleotide is weakly/moderately conserved with a PhyloP score of -0.864 and a PhastCons score of 0 meeting BP7 criteria (PhyloP < 0.1). In summary, this variant meets criteria to be classified as variant of uncertain significance. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BP4, BP7, PM2_Supporting.

PM2

This variant is absent from gnomAD v2.1.1, v3.1.1, and v4.0.0 (PM2_Supporting).

BP7

The variant is not predicted to cause a splicing impact and the nucleotide is weakly/moderately conserved with a PhyloP score of -0.864 and a PhastCons score of 0 meeting BP7 criteria (PhyloP < 0.1).

BP4

SpliceAI predicts no splicing impact for this variant meeting BP4.

Approved on: 2024-02-19

Published on: 2024-02-19

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.