NM_000488.4(SERPINC1):c.173dup (p.Glu59fs) AND Hereditary antithrombin deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 1, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000851716.1

Allele description [Variation Report for NM_000488.4(SERPINC1):c.173dup (p.Glu59fs)]

NM_000488.4(SERPINC1):c.173dup (p.Glu59fs)

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.173dup (p.Glu59fs)

HGVS:

NC_000001.11:g.173914791dup
NG_012462.1:g.7591dup
NM_000488.4:c.173dupMANE SELECT
NM_001365052.2:c.29dup
NM_001386302.1:c.173dup
NM_001386303.1:c.254dup
NM_001386304.1:c.173dup
NM_001386305.1:c.173dup
NM_001386306.1:c.173dup
NP_000479.1:p.Glu59fs
NP_001351981.1:p.Glu11fs
NP_001373231.1:p.Glu59fs
NP_001373232.1:p.Glu86fs
NP_001373233.1:p.Glu59fs
NP_001373234.1:p.Glu59fs
NP_001373235.1:p.Glu59fs
LRG_577:g.7591dup
NC_000001.10:g.173883929dup
NM_000488.3:c.173dupC

Protein change:

E11fs

Links:

dbSNP: rs1572092076

NCBI 1000 Genomes Browser:

rs1572092076

Molecular consequence:

NM_000488.4:c.173dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365052.2:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386302.1:c.173dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386303.1:c.254dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386304.1:c.173dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386305.1:c.173dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001386306.1:c.173dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000899551	NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 1, 2019)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31064749

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000899551

NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 1, 2019)

unknown

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
European	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, et al.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PubMed [citation]

PMID:: 31064749
PMCID:: PMC6993014

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899551.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	1	not provided	not provided	research	PubMed (2)

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine