U.S. flag

An official website of the United States government

NC_000023.11:g.(?_139530759)_(139562076_?)del AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 18, 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:
RCV000646762.2

Allele description [Variation Report for NC_000023.11:g.(?_139530759)_(139562076_?)del]

NC_000023.11:g.(?_139530759)_(139562076_?)del

Gene:
F9:coagulation factor IX [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq27.1
Genomic location:
Preferred name:
NC_000023.11:g.(?_139530759)_(139562076_?)del
HGVS:
  • NC_000023.11:g.(?_139530759)_(139562076_?)del
  • NC_000023.10:g.(?_138612918)_(138644235_?)del

Condition(s)

Name:
Hereditary factor IX deficiency disease (HEMB)
Synonyms:
F9 DEFICIENCY; FACTOR IX DEFICIENCY; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010604; MeSH: D002836; MedGen: C0008533; Orphanet: 98879; OMIM: 306900
Name:
Thrombophilia, X-linked, due to factor 9 defect
Synonyms:
Thrombophilia, X-linked, due to factor IX defect
Identifiers:
MONDO: MONDO:0010432; MedGen: C2749016; OMIM: 300807

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000768547Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 18, 2017) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients.

Matthews RJ, Anson DS, Peake IR, Bloom AL.

J Clin Invest. 1987 Mar;79(3):746-53.

PubMed [citation]
PMID:
3029178
PMCID:
PMC424186

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

Koeberl DD, Bottema CD, Ketterling RP, Bridge PJ, Lillicrap DP, Sommer SS.

Am J Hum Genet. 1990 Aug;47(2):202-17.

PubMed [citation]
PMID:
2198809
PMCID:
PMC1683712
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000768547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the F9 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole gene deletions of F9 have been reported in numerous individuals with hemophilia B (PMID: 24375831, 8304338, 3029178, 2198809, 4045960). Loss-of-function variants in F9 are known to be pathogenic (PMID: 20301668). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jan 13, 2025