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]
Link to SEPIO compliant JSON-LD document
  • No ClinVar Id was directly found from the curated document
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_001386306.1:c.1097G>T

CA343772379

Gene: SERPINC1
Condition: antithrombin III deficiency
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: f175fc11-74da-452a-a13b-adebd58169f1

HGVS expressions

NM_001386306.1:c.1097G>T
NC_000001.11:g.173903971C>A
CM000663.2:g.173903971C>A
NC_000001.10:g.173873109C>A
CM000663.1:g.173873109C>A
NC_000001.9:g.172139732C>A
NG_012462.1:g.18408G>T
ENST00000367698.4:c.1313G>T
ENST00000367698.3:c.1313G>T
ENST00000617423.4:c.698G>T
NM_000488.3:c.1313G>T
NM_001365052.1:c.1169G>T
NM_000488.4:c.1313G>T
NM_001365052.2:c.1169G>T
NM_001386302.1:c.1436G>T
NM_001386303.1:c.1394G>T
NM_001386304.1:c.1292G>T
NM_001386305.1:c.1256G>T

Uncertain Significance

Met criteria codes 2
PM2_Supporting PP3
Not Met criteria codes 2
BP4 PP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Thrombosis VCEP
The c.1313G>T (NM_000488.3) variant in SERPINC1 is a missense variant predicted to cause substitution of arginine by methionine at amino acid 438 (p.Arg438Met). The variant is absent from gnomAD v2.1.1, v3.1, v4.0.0 with good coverage across both genomes and exomes, meeting criteria for PM2_supporting. The computational predictor REVEL gives a score of 0.82, which is above the threshold of >0.6 and provides evidence that correlates with impact to SERPINC1 function, meeting criteria for PP3. 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 AT Deficiency for SERPINC1: PP3, PM2_Supporting.
Met criteria codes
PM2_Supporting
The variant is absent from gnomAD v2.1.1, v3.1, and v4.0.0 with good coverage across both genomes and exomes, meeting criteria for PM2_supporting.
PP3
The computational predictor REVEL gives a score of 0.82, which is above the threshold of >0.6 and provides evidence that correlates with impact to SERPINC1 function (PP3).
Not Met criteria codes
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No cases identified
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.
¤ Powered by BCM's Genboree.