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NM_000130.5(F5):c.3924_3927del (p.Ser1308fs) AND Factor V deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 1998
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:
RCV000000680.3

Allele description [Variation Report for NM_000130.5(F5):c.3924_3927del (p.Ser1308fs)]

NM_000130.5(F5):c.3924_3927del (p.Ser1308fs)

Gene:
F5:coagulation factor V [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q24.2
Genomic location:
Preferred name:
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs)
Other names:
F5, 4-BP DEL, EX13
HGVS:
  • NC_000001.11:g.169541163CTGA[1]
  • NG_011806.1:g.50362TCAG[1]
  • NM_000130.5:c.3924_3927delMANE SELECT
  • NP_000121.2:p.Ser1308fs
  • LRG_553:g.50362TCAG[1]
  • NC_000001.10:g.169510401CTGA[1]
Protein change:
S1308fs
Links:
OMIM: 612309.0004; dbSNP: rs2101818393
NCBI 1000 Genomes Browser:
rs2101818393
Molecular consequence:
  • NM_000130.5:c.3924_3927del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Factor V deficiency
Synonyms:
Reduced coagulation factor V activity
Identifiers:
MONDO: MONDO:0020586; MedGen: C4317320; Orphanet: 326; Human Phenotype Ontology: HP:0003225

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020830OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 1998) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.

Guasch JF, Cannegieter S, Reitsma PH, van't Veer-Korthof ET, Bertina RM.

Br J Haematol. 1998 Apr;101(1):32-9.

PubMed [citation]
PMID:
9576178

Details of each submission

From OMIM, SCV000020830.2

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

Description

In a young girl with very mild bleeding symptoms and undetectable levels of plasma factor V antigen and activity (227400), Guasch et al. (1998) identified a homozygous 4-bp deletion in exon 13 of the F5 gene, resulting in a frameshift and premature protein termination. The truncated factor V molecule was predicted to lack part of the B domain and the complete light chain. However, no factor V heavy chain could be detected in the plasma of the patient or in the patient's platelets. This was the first reported mutation in the factor V gene that predicted a type I quantitative factor V deficiency. The patient presented at the age of 3 years with prolonged bleeding from a cut in her upper lip after trauma. The parents were consanguineous, and each had a plasma level of factor V activity of about 50% of normal.

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

Last Updated: Apr 15, 2024