Variant #0000499666 (NC_000011.9:g.57365055C>T, NM_000062.2:c.-163C>T (SERPING1))
| Individual ID |
00245746 |
| Chromosome |
11 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Probably affects function |
| Classification method |
ACMG |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.57365055C>T |
| DNA change (hg38) |
g.57597582C>T |
| Published as |
c.[-103C>T];[-103C>T] |
| ISCN |
- |
| DB-ID |
SERPING1_000185 |
| Variant remarks |
c.-163C>T variant is the sole idiomorphic nucleotide change in the kindred, found homozygous in the proband, at variance with the dominant mode of transmission observed for structural mutations.
Pathogenic when homozygous, with severe HAE. and low C1-INH levels; homozygosity because of consanguinity.
Variant altering the first nucleotide of a putative CAAT box, the first promoter variant reported in the SERPING1 gene.
In contrast, heterozygous individuals display C1-INH levels within the normal range, although often at its lower level, and were free of angioedema attacks. |
| Reference |
PubMed: Verpy 1996 |
| ClinVar ID |
ClinVar-000003956 |
| dbSNP ID |
rs1387768389 |
| Origin |
Germline |
| Segregation |
no |
| Frequency |
0.000007 (gnomAD) |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Christian Drouet |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Christian Drouet |
| Date created |
2019-07-06 17:16:01 +02:00 (CEST) |
| Date last edited |
2025-03-21 17:39:14 +01:00 (CET) |
Variant on transcripts
Screenings
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