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NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs) AND Hereditary antithrombin deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 14, 2022
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:
RCV002463182.1

Allele description [Variation Report for NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)]

NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)

Gene:
SERPINC1:serpin family C member 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q25.1
Genomic location:
Preferred name:
NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)
HGVS:
  • NC_000001.11:g.173904037dup
  • NG_012462.1:g.18342dup
  • NM_000488.4:c.1247dupMANE SELECT
  • NM_001365052.2:c.1103dup
  • NM_001386302.1:c.1370dup
  • NM_001386303.1:c.1328dup
  • NM_001386304.1:c.1226dup
  • NM_001386305.1:c.1190dup
  • NM_001386306.1:c.1031dup
  • NP_000479.1:p.Ser417fs
  • NP_001351981.1:p.Ser369fs
  • NP_001373231.1:p.Ser458fs
  • NP_001373232.1:p.Ser444fs
  • NP_001373233.1:p.Ser410fs
  • NP_001373234.1:p.Ser398fs
  • NP_001373235.1:p.Ser345fs
  • LRG_577t1:c.1247dup
  • LRG_577:g.18342dup
  • NC_000001.10:g.173873175dup
  • NM_000488.3:c.1247dupC
Protein change:
S345fs
Molecular consequence:
  • NM_000488.4:c.1247dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365052.2:c.1103dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386302.1:c.1370dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386303.1:c.1328dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386304.1:c.1226dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386305.1:c.1190dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386306.1:c.1031dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

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
SCV002520629Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen
no assertion criteria provided
Likely pathogenic
(Apr 14, 2022) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen, SCV002520629.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
21not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided
2inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024