U.S. flag

An official website of the United States government

NM_000133.4(F9):c.613A>G (p.Thr205Ala) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 22, 2019
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:
RCV001001248.8

Allele description [Variation Report for NM_000133.4(F9):c.613A>G (p.Thr205Ala)]

NM_000133.4(F9):c.613A>G (p.Thr205Ala)

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.613A>G (p.Thr205Ala)
HGVS:
  • NC_000023.11:g.139551154A>G
  • NG_007994.1:g.25419A>G
  • NM_000133.4:c.613A>GMANE SELECT
  • NM_001313913.2:c.499A>G
  • NP_000124.1:p.Thr205Ala
  • NP_001300842.1:p.Thr167Ala
  • LRG_556:g.25419A>G
  • NC_000023.10:g.138633313A>G
Protein change:
T167A
Links:
dbSNP: rs1603265805
NCBI 1000 Genomes Browser:
rs1603265805
Molecular consequence:
  • NM_000133.4:c.613A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001313913.2:c.499A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV001158416ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Apr 22, 2019) 		germlineclinical testing

Citation Link

Help

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, SCV001158416.1

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

Description

The F9 c.613A>G; p.Thr205Ala variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The threonine at codon 205 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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

Last Updated: Mar 4, 2023