NM_000132.4(F8):c.6518C>T (p.Thr2173Ile) AND Hereditary factor VIII deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1992
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:: RCV000011030.4

Allele description [Variation Report for NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)]

NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)

Other names:

F8, THR2154ILE; T2154I

HGVS:

NC_000023.11:g.154863139G>A
NG_011403.2:g.164585C>T
NM_000132.4:c.6518C>TMANE SELECT
NM_019863.3:c.113C>T
NP_000123.1:p.Thr2173Ile
NP_063916.1:p.Thr38Ile
LRG_555t1:c.6518C>T
LRG_555:g.164585C>T
LRG_555p1:p.Thr2173Ile
NC_000023.10:g.154091414G>A
NG_011403.1:g.164585C>T
P00451:p.Thr2173Ile

Protein change:

T2173I; THR2154ILE

Links:

UniProtKB: P00451#VAR_001189; OMIM: 300841.0233; dbSNP: rs137852463

NCBI 1000 Genomes Browser:

rs137852463

Molecular consequence:

NM_000132.4:c.6518C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019863.3:c.113C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary factor VIII deficiency disease (HEMA)
Synonyms:: Hemophilia A; Hemophilia A, congenital; Hemophilia, classic; 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
SCV000031257	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031257

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1992)

germline

literature only

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

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

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis.

Jonsdottir S, Diamond C, Levinson B, Magnusson S, Jensson O, Gitschier J.

Hum Mutat. 1992;1(6):506-8. No abstract available.

PubMed [citation]

PMID:: 1301960

Details of each submission

From OMIM, SCV000031257.2

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

Description

Jonsdottir et al. (1992) found this mutation in a patient with 6% factor VIII activity and mild hemophilia A (306700). The mutation was caused by an ACT-to-ATT transition at codon 2154 in exon 23 of the C1 domain, resulting in isoleucine for threonine-2154.

#	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: Jun 9, 2024

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