NM_000504.4(F10):c.872G>A (p.Arg291Gln) AND Hereditary factor X deficiency disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 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:: RCV001375848.2

Allele description [Variation Report for NM_000504.4(F10):c.872G>A (p.Arg291Gln)]

NM_000504.4(F10):c.872G>A (p.Arg291Gln)

Gene:

F10:coagulation factor X [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_000504.4(F10):c.872G>A (p.Arg291Gln)

HGVS:

NC_000013.11:g.113148922G>A
NG_009258.1:g.31124G>A
NM_000504.4:c.872G>AMANE SELECT
NM_001312674.2:c.740G>A
NM_001312675.2:c.862G>A
NP_000495.1:p.Arg291Gln
NP_001299603.1:p.Arg247Gln
NP_001299604.1:p.Gly288Arg
LRG_548t1:c.872G>A
LRG_548:g.31124G>A
NC_000013.10:g.113803236G>A
NM_000504.3:c.872G>A

Protein change:

G288R

Links:

dbSNP: rs149212700

NCBI 1000 Genomes Browser:

rs149212700

Molecular consequence:

NM_000504.4:c.872G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001312674.2:c.740G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001312675.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary factor X deficiency disease
Synonyms:: STUART-PROWER FACTOR DEFICIENCY; Congenital factor X deficiency
Identifiers:: MONDO: MONDO:0009212; MedGen: C0272327; Orphanet: 328; OMIM: 227600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000889987	Center for Precision Medicine, Vanderbilt University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 16, 2018)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 29590070

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000889987

Center for Precision Medicine, Vanderbilt University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 16, 2018)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	15	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, et al.

Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043.

PubMed [citation]

PMID:: 29590070
PMCID:: PMC5959723

Details of each submission

From Center for Precision Medicine, Vanderbilt University Medical Center, SCV000889987.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	15	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	discovery		15	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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