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NM_000133.4(F9):c.226G>A (p.Glu76Lys) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 9, 2018
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:
RCV001001434.8

Allele description [Variation Report for NM_000133.4(F9):c.226G>A (p.Glu76Lys)]

NM_000133.4(F9):c.226G>A (p.Glu76Lys)

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.226G>A (p.Glu76Lys)
HGVS:
  • NC_000023.11:g.139537147G>A
  • NG_007994.1:g.11412G>A
  • NM_000133.4:c.226G>AMANE SELECT
  • NM_001313913.2:c.226G>A
  • NP_000124.1:p.Glu76Lys
  • NP_001300842.1:p.Glu76Lys
  • LRG_556:g.11412G>A
  • NC_000023.10:g.138619306G>A
Protein change:
E76K
Links:
dbSNP: rs1603264236
NCBI 1000 Genomes Browser:
rs1603264236
Molecular consequence:
  • NM_000133.4:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001313913.2:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001158670ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(Dec 9, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158670.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The F9 c.226G>A; p.Glu76Lys variant, also known as p.Glu30Lys, is reported in the literature in two individuals affected with severe hemophilia B (Ketterling 1993, Chavali 2009, Factor IX database). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. Additionally, other amino acid substitutions at this codon (Ala, Asp, and Gln) have been reported in individuals with hemophilia B and are considered pathogenic (Rydz 2013, Factor IX database and references therein). The glutamic acid at codon 76 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. REFERENCES Link to Factor IX database: http://www.factorix.org/ Chavali S et al. Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity. Genomics. 2009Dec;94(6):433-7. Ketterling RP et al. Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet. 1993 Jan;52(1):152-66. Rydz N et al. The Canadian National Program for hemophilia mutation testing" database: a ten-year review. Am J Hematol. 2013 Dec;88(12):1030-4. "

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

Last Updated: Mar 4, 2023