NM_000488.3(SERPINC1):c.442T>C (p.Ser148Pro) AND Antithrombin III deficiency

Clinical significance:Pathogenic (Last evaluated: Mar 1, 1993)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019655.23

Allele description [Variation Report for NM_000488.3(SERPINC1):c.442T>C (p.Ser148Pro)]

NM_000488.3(SERPINC1):c.442T>C (p.Ser148Pro)

Gene:
SERPINC1:serpin peptidase inhibitor, clade C (antithrombin), member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.1
Genomic location:
Preferred name:
NM_000488.3(SERPINC1):c.442T>C (p.Ser148Pro)
HGVS:
  • NC_000001.11:g.173911981A>G
  • NG_012462.1:g.10398T>C
  • NM_000488.3:c.442T>C
  • NP_000479.1:p.Ser148Pro
  • LRG_577t1:c.442T>C
  • LRG_577:g.10398T>C
  • LRG_577p1:p.Ser148Pro
  • NC_000001.10:g.173881119A>G
Protein change:
S116P; SER116PRO
Links:
OMIM: 107300.0043; dbSNP: 121909569
NCBI 1000 Genomes Browser:
rs121909569
Molecular consequence:
  • NM_000488.3:c.442T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Antithrombin III deficiency (AT3D)
Synonyms:
Thrombophilia due to antithrombin III deficiency
Identifiers:
MedGen: C0272375; OMIM: 613118

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039953OMIMno assertion criteria providedPathogenic
(Mar 1, 1993)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

Okajima K, Abe H, Maeda S, Motomura M, Tsujihata M, Nagataki S, Okabe H, Takatsuki K.

Blood. 1993 Mar 1;81(5):1300-5.

PubMed [citation]
PMID:
8443391

Details of each submission

From OMIM, SCV000039953.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 33-year-old man who had recurrent cerebral infarctions (613118), Okajima et al. (1993) found a T-to-C transition in exon 3a which resulted in the substitution of proline for serine at codon 116. The patient was heterozygous for the mutation, which lacked affinity for heparin. The variant was designated AT-III Nagasaki.

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

Last Updated: Feb 17, 2016