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NM_000128.4(F11):c.1517A>G (p.Asp506Gly) AND Hereditary factor XI deficiency disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 18, 2017
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:
RCV000666655.1

Allele description [Variation Report for NM_000128.4(F11):c.1517A>G (p.Asp506Gly)]

NM_000128.4(F11):c.1517A>G (p.Asp506Gly)

Genes:
F11-AS1:F11 antisense RNA 1 [Gene - HGNC]
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.1517A>G (p.Asp506Gly)
HGVS:
  • NC_000004.12:g.186286451A>G
  • NG_008051.1:g.25488A>G
  • NM_000128.4:c.1517A>GMANE SELECT
  • NP_000119.1:p.Asp506Gly
  • NP_000119.1:p.Asp506Gly
  • LRG_583t1:c.1517A>G
  • LRG_583:g.25488A>G
  • LRG_583p1:p.Asp506Gly
  • NC_000004.11:g.187207605A>G
  • NM_000128.3:c.1517A>G
  • P03951:p.Asp506Gly
Protein change:
D506G
Links:
UniProtKB: P03951#VAR_067950; UniProtKB/Swiss-Prot: VAR_067950; dbSNP: rs281875258
NCBI 1000 Genomes Browser:
rs281875258
Molecular consequence:
  • NM_000128.4:c.1517A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary factor XI deficiency disease
Synonyms:
Plasma thromboplastin antecedent deficiency; PTA deficiency; Rosenthal syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012897; MeSH: D005173; MedGen: C0015523; Orphanet: 329; OMIM: 612416

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000790984Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Apr 18, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

Lee JH, Cho HS, Hyun MS, Kim HY, Kim HJ.

Korean J Lab Med. 2011 Oct;31(4):290-3. doi: 10.3343/kjlm.2011.31.4.290. Epub 2011 Oct 3.

PubMed [citation]
PMID:
22016685
PMCID:
PMC3190010

Details of each submission

From Counsyl, SCV000790984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024