SERPINC1, 1-BP DEL, A AND Antithrombin III deficiency

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 1991
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000019640.27

Allele description

SERPINC1, 1-BP DEL, A

Gene:

SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q23-q25

Preferred name:

SERPINC1, 1-BP DEL, A

HGVS:

Nucleotide change:

1-BP DEL, A

Links:

OMIM: 107300.0028

Condition(s)

Name:: Antithrombin III deficiency (AT3D)
Synonyms:: Thrombophilia due to antithrombin III deficiency; Reduced antithrombin III activity; Anti-thrombin III deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013144; MedGen: C0272375; OMIM: 613118; Human Phenotype Ontology: HP:0001976

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039938	OMIM	no assertion criteria provided	Pathogenic (Aug 15, 1991)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039938

OMIM

no assertion criteria provided

Pathogenic
(Aug 15, 1991)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Recurrent deletion in the human antithrombin III gene.

Grundy CB, Thomas F, Millar DS, Krawczak M, Melissari E, Lindo V, Moffat E, Kakkar VV, Cooper DN.

Blood. 1991 Aug 15;78(4):1027-32.

PubMed [citation]

PMID:: 1868237

Details of each submission

From OMIM, SCV000039938.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Grundy et al. (1991) identified 2 patients, each from unrelated families segregating AT-III deficiency and a history of thrombosis (613118), who were heterozygous for different frameshift mutations involving the same GAG codon (glu245) in exon 4 of the AT3 gene. One patient had a heterozygous deletion of the A nucleotide, whereas the second had a heterozygous deletion of an A and a G (107300.0029). Grundy et al. (1991) pointed out that the deletion-prone glu245 codon is located within a GAGAG motif that is effectively a short overlapping direct repeat. In addition, a short inverted repeat flanked the site of deletion. They pointed to similar deletion hotspots in the F8, HPRT, HBA2, and HBB genes and pointed out common characteristics of these hotspots.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 13, 2021

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