NM_000132.4(F8):c.6812T>C (p.Leu2271Pro) AND Hereditary factor VIII deficiency disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2019
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:: RCV001265087.2

Allele description [Variation Report for NM_000132.4(F8):c.6812T>C (p.Leu2271Pro)]

NM_000132.4(F8):c.6812T>C (p.Leu2271Pro)

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.6812T>C (p.Leu2271Pro)

HGVS:

NC_000023.11:g.154860520A>G
NG_011403.2:g.167204T>C
NM_000132.4:c.6812T>CMANE SELECT
NM_019863.3:c.407T>C
NP_000123.1:p.Leu2271Pro
NP_063916.1:p.Leu136Pro
LRG_555t1:c.6812T>C
LRG_555:g.167204T>C
LRG_555p1:p.Leu2271Pro
NC_000023.10:g.154088795A>G
NG_011403.1:g.167204T>C
NM_000132.3:c.6812T>C

Protein change:

L136P

Links:

dbSNP: rs2072682503

NCBI 1000 Genomes Browser:

rs2072682503

Molecular consequence:

NM_000132.4:c.6812T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_019863.3:c.407T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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: 134500; OMIM: 306700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001424877	Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	no assertion criteria provided	Likely pathogenic (Jun 1, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001424877

Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

no assertion criteria provided

Likely pathogenic
(Jun 1, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Causasians	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, SCV001424877.1

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

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

Last Updated: Jun 17, 2024

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