NM_000133.3(F9):c.316G>A (p.Gly106Ser) AND Hereditary Factor ...

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• This record was updated by the submitter. Please see the current version.

NM_000133.3(F9):c.316G>A (p.Gly106Ser) AND Hereditary factor IX deficiency disease

Germline classification:Pathogenic (1 submission)Last evaluated:Jul 25, 1989Review status:(0/4) 0 stars out of maximum of 4 starsno assertion criteria providedSomatic classificationof clinical impact:NoneReview status:(0/4) 0 stars out of maximum of 4 starsno assertion criteria providedSomatic classificationof oncogenicity:NoneReview status:(0/4) 0 stars out of maximum of 4 starsno assertion criteria providedRecord status:currentAccession:RCV000011325.7

Allele description

NM_000133.3(F9):c.316G>A (p.Gly106Ser)

Gene:F9:coagulation factor IX [Gene - OMIM - HGNC]Variant type:single nucleotide variantCytogenetic location: Xq27.1Genomic location:

• ChrX: 139541114 (on Assembly GRCh38)
• ChrX: 138623273 (on Assembly GRCh37)

Preferred name:NM_000133.3(F9):c.316G>A (p.Gly106Ser)Other names:F9, GLY60SER; G60SHGVS:

• NC_000023.11:g.139541114G>A
• NG_007994.1:g.15379G>A
• NM_000133.3:c.316G>A
• NM_001313913.1:c.277+3728G>A
• NP_000124.1:p.Gly106Ser
• LRG_556t1:c.316G>A
• LRG_556:g.15379G>A
• LRG_556p1:p.Gly106Ser
• NC_000023.10:g.138623273G>A
• P00740:p.Gly106Ser

This HGVS expression did not pass validationProtein change:G106S; GLY60SERLinks:UniProtKB: P00740#VAR_006549; OMIM: 300746.0022; dbSNP: rs137852233NCBI 1000 Genomes Browser:rs137852233Molecular consequence:

• NM_001313913.1:c.277+3728G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000133.3:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]

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; MedGen: C0008533; Orphanet: 98879; OMIM: 306900

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Assertion and evidence details

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031556	OMIM	no assertion criteria provided	Pathogenic (Jul 25, 1989)	germline	literature only	PubMed (3) [See all records that cite these PMIDs]3262389, 2929599, 2762170

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction.

Denton PH, Fowlkes DM, Lord ST, Reisner HM.

Blood. 1988 Oct;72(4):1407-11.

PubMed [citation]PMID: 3262389

Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.

Chen SH, Scott CR, Schoof J, Lovrien EW, Kurachi K.

Am J Hum Genet. 1989 Apr;44(4):567-9.

PubMed [citation]PMID: 2929599 PMCID: PMC1715568 See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000031556.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

This variant has been designated factor IX Durham.

In 2 men with mild hemophilia B (306900), Denton et al. (1988) found that the highly conserved gly60 residue had been changed to ser. The mutation was accompanied by defective epitope expression in the 2 patients, suggesting that a change in the tertiary structure of the EGF-like domain is the cause of the mild hemophilia B. See Chen et al. (1989).

Poort et al. (1989) found the same mutation in a Dutch family. A G-to-A change at position 10430 in exon 4 was responsible. The presence of the same mutation in 3 patients from distinct geographic areas confirmed the notion that CpG dinucleotides are 'hotspots' for mutation.

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

Last Updated: Oct 6, 2020