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NM_000133.4(F9):c.48C>A (p.Thr16=) AND Hereditary factor IX deficiency disease

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 29, 2021
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:
RCV001832680.1

Allele description [Variation Report for NM_000133.4(F9):c.48C>A (p.Thr16=)]

NM_000133.4(F9):c.48C>A (p.Thr16=)

Gene:
F9:coagulation factor IX [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq27.1
Genomic location:
Preferred name:
NM_000133.4(F9):c.48C>A (p.Thr16=)
HGVS:
  • NC_000023.11:g.139530812C>A
  • NG_007994.1:g.5077C>A
  • NM_000133.4:c.48C>AMANE SELECT
  • NM_001313913.2:c.48C>A
  • NP_000124.1:p.Thr16=
  • NP_001300842.1:p.Thr16=
  • LRG_556:g.5077C>A
  • NC_000023.10:g.138612971C>A
Links:
dbSNP: rs768833956
NCBI 1000 Genomes Browser:
rs768833956
Molecular consequence:
  • NM_000133.4:c.48C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001313913.2:c.48C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary factor IX deficiency disease (HEMB)
Synonyms:
F9 DEFICIENCY; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Hemophilia B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010604; MeSH: D002836; MedGen: C0008533; Orphanet: 98879; OMIM: 306900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002083689Natera, Inc.
no assertion criteria provided
Likely benign
(Sep 29, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002083689.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024