NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 6, 2017
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:: RCV000756109.8

Allele description [Variation Report for NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)]

NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)

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.5879G>A (p.Arg1960Gln)

Other names:

F8, ARG1941GLN; R1941Q

HGVS:

NC_000023.11:g.154904025C>T
NG_011403.2:g.123699G>A
NM_000132.4:c.5879G>AMANE SELECT
NP_000123.1:p.Arg1960Gln
NP_000123.1:p.Arg1960Gln
LRG_555t1:c.5879G>A
LRG_555:g.123699G>A
LRG_555p1:p.Arg1960Gln
NC_000023.10:g.154132300C>T
NG_011403.1:g.123699G>A
NM_000132.3:c.5879G>A
P00451:p.Arg1960Gln

Protein change:

R1960Q; ARG1941GLN

Links:

UniProtKB: P00451#VAR_001170; OMIM: 300841.0026; dbSNP: rs28937294

NCBI 1000 Genomes Browser:

rs28937294

Molecular consequence:

NM_000132.4:c.5879G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000883827	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Dec 6, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000883827

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Dec 6, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883827.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The F8 c.5879G>A; p.Arg1960Gln variant (rs28937294) has been reported in several individuals with mild hemophilia A (see F8 database link and references therein) and in the ClinVar database (Variation ID: 10110). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). The arginine at codon 1960 is well conserved and computational algorithms (SIFT, PolyPhen2, MutationTaster) predict this variant to be deleterious. Based on the above information, this variant is considered pathogenic. References: Link to p.Arg1960Gln in F8 Variant Database: http://www.factorviii-db.org/newstructure.php?aa_first=Arg&mut_id=1423&aa_last=Gln&variable=1423&hash=a3c7518bdeb6cb1e707ce33f837f89b4

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

Last Updated: Jun 17, 2024

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