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NM_000488.4(SERPINC1):c.42-486_1154-846del AND Hereditary antithrombin deficiency

Germline classification:
Pathogenic (1 submission)
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:
RCV001779979.2

Allele description [Variation Report for NM_000488.4(SERPINC1):c.42-486_1154-846del]

NM_000488.4(SERPINC1):c.42-486_1154-846del

Gene:
SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q25.1
Genomic location:
Preferred name:
NM_000488.4(SERPINC1):c.42-486_1154-846del
HGVS:
  • NC_000001.11:g.173908360_173915405del
  • NG_012462.1:g.6974_14019del
  • NM_000488.4:c.42-486_1154-846delMANE SELECT
  • NM_001365052.2:c.-272-219_1010-846del
  • NM_001386302.1:c.42-486_1277-846del
  • NM_001386303.1:c.123-486_1235-846del
  • NM_001386304.1:c.42-486_1133-846del
  • NM_001386305.1:c.42-486_1097-846del
  • NM_001386306.1:c.42-486_938-846del
  • LRG_577:g.6974_14019del
  • NC_000001.10:g.173877498_173884543del
Molecular consequence:
  • NM_001365052.2:c.-272-219_1010-846del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000488.4:c.42-486_1154-846del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001365052.2:c.-272-219_1010-846del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001386302.1:c.42-486_1277-846del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001386303.1:c.123-486_1235-846del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001386304.1:c.42-486_1133-846del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001386305.1:c.42-486_1097-846del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001386306.1:c.42-486_938-846del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000488.4:c.42-486_1154-846del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001365052.2:c.-272-219_1010-846del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386302.1:c.42-486_1277-846del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386303.1:c.123-486_1235-846del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386304.1:c.42-486_1133-846del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386305.1:c.42-486_1097-846del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386306.1:c.42-486_938-846del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002016217Servicio de Hematología y Oncología médica, Universidad de Murcia
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Servicio de Hematología y Oncología médica, Universidad de Murcia, SCV002016217.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

AntiFXa 52%; Ag 37%

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024