NM_000132.4(F8):c.6670_6672del (p.Pro2224del) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1993
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:: RCV000011036.4

Allele description [Variation Report for NM_000132.4(F8):c.6670_6672del (p.Pro2224del)]

NM_000132.4(F8):c.6670_6672del (p.Pro2224del)

Gene:

F8:coagulation factor VIII [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.4(F8):c.6670_6672del (p.Pro2224del)

Other names:

F8, 3-BP DEL, PRO220 DEL

HGVS:

NC_000023.11:g.154861771_154861773del
NG_011403.2:g.165953_165955del
NM_000132.4:c.6670_6672delMANE SELECT
NM_019863.3:c.265_267del
NP_000123.1:p.Pro2224del
NP_063916.1:p.Pro89del
LRG_555t1:c.6670_6672del
LRG_555:g.165953_165955del
LRG_555p1:p.Pro2224del
NC_000023.10:g.154090046_154090048del

Protein change:

P2224del

Links:

OMIM: 300841.0240; dbSNP: rs1229477261

NCBI 1000 Genomes Browser:

rs1229477261

Molecular consequence:

NM_000132.4:c.6670_6672del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_019863.3:c.265_267del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Hereditary factor VIII deficiency disease (HEMA)
Synonyms:: AUTOSOMAL HEMOPHILIA A; Hemophilia A; Hemophilia A, congenital; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010602; MedGen: C0019069; Orphanet: 98878; OMIM: 306700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031263	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1993)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1639429, 8307558

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031263

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1993)

germline

literature only

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

Economou EP, Kazazian HH Jr, Antonarakis SE.

Genomics. 1992 Jul;13(3):909-11. No abstract available.

PubMed [citation]

PMID:: 1639429

Characterization of genetic defects of hemophilia A in patients of Chinese origin.

Lin SW, Lin SR, Shen MC.

Genomics. 1993 Dec;18(3):496-504.

PubMed [citation]

PMID:: 8307558

Details of each submission

From OMIM, SCV000031263.1

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

Description

In 3 patients with less than 1% factor VIII activity and severe-to-moderate hemophilia A (306700), Economou et al. (1992) and Lin et al. (1993) identified an in-frame deletion of 3-bp corresponding to codon 2205 (TctcCT) in exon 24 of the C2 domain, resulting in the deletion of proline-2205.

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

Last Updated: Oct 26, 2024

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