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]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC related information was provided by the message!
  • No CSPEC computer assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

Variant: NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)

CA1251325

293839 (ClinVar)

Gene: SERPINC1
Condition: antithrombin III deficiency
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: ef2a8166-a1f3-4a2e-ba69-a9c42df7a735
Approved on: 2024-08-16
Published on: 2024-08-21

HGVS expressions

NM_000488.4:c.870C>T
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)
NC_000001.11:g.173909835G>A
CM000663.2:g.173909835G>A
NC_000001.10:g.173878973G>A
CM000663.1:g.173878973G>A
NC_000001.9:g.172145596G>A
NG_012462.1:g.12544C>T
ENST00000367698.4:c.870C>T
ENST00000367698.3:c.870C>T
ENST00000487183.1:n.521C>T
ENST00000617423.4:c.559+2029C>T
NM_000488.3:c.870C>T
NM_001365052.1:c.726C>T
NM_001365052.2:c.726C>T
NM_001386302.1:c.993C>T
NM_001386303.1:c.951C>T
NM_001386304.1:c.849C>T
NM_001386305.1:c.813C>T
NM_001386306.1:c.654C>T
More

Likely Benign

Met criteria codes 2
BS1 BP4
Not Met criteria codes 1
BP7

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Thrombosis VCEP
The c.870C>T (NM_000488.4) variant in SERPINC1 does not code for a different amino acid (p.Phe290=). The highest population minor allele frequency in gnomAD v2.1.1 is 0.0003730 (48/128676 alleles) in the European population, which is higher than the ClinGen SERPINC1 threshold ([>0.0002]) for BS1, and therefore meets this criterion (BS1). SpliceAI predicts no splicing impact for this variant meeting BP4. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BP4, BP7.
Met criteria codes
BS1
The highest population minor allele frequency in gnomAD v2.1.1 is 0.0003730 (48/128676 alleles) in the European population, which is higher than the ClinGen SERPINC1 threshold ([>0.0002]) for BS1, and therefore meets this criterion (BS1).
BP4
SpliceAI predicts no splicing impact for this variant meeting BP4.
Not Met criteria codes
BP7
Nucleotide is conserved with a PhyloP score of 3.83161, which does not meet criteria of PhyloP < 0.1.
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.
¤ Powered by BCM's Genboree.