NM_019616.4(F7):c.481G>A (p.Asp161Asn) AND Factor VII deficiency

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_019616.4(F7):c.481G>A (p.Asp161Asn)]

NM_019616.4(F7):c.481G>A (p.Asp161Asn)

F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_019616.4(F7):c.481G>A (p.Asp161Asn)
  • NC_000013.11:g.113115776G>A
  • NG_009262.1:g.14986G>A
  • NM_000131.4:c.547G>A
  • NM_001267554.1:c.295G>A
  • NM_019616.4:c.481G>AMANE SELECT
  • NP_000122.1:p.Asp183Asn
  • NP_001254483.1:p.Asp99Asn
  • NP_062562.1:p.Asp161Asn
  • LRG_554t1:c.547G>A
  • LRG_554:g.14986G>A
  • LRG_554p1:p.Asp183Asn
  • NC_000013.10:g.113770090G>A
  • NR_051961.2:n.565G>A
Protein change:
Molecular consequence:
  • NM_000131.4:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267554.1:c.295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019616.4:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_051961.2:n.565G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Factor VII deficiency
Factor 7 deficiency; F7 deficiency; Hypoproconvertinemia
MedGen: C0015503; Orphanet: 327; OMIM: 227500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001272314Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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



Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

Herrmann FH, Wulff K, Auerswald G, Schulman S, Astermark J, Batorova A, Kreuz W, Pollmann H, Ruiz-Saez A, De Bosch N, Salazar-Sanchez L; Greifswald Factor FVII Deficiency Study Group..

Haemophilia. 2009 Jan;15(1):267-80. doi: 10.1111/j.1365-2516.2008.01910.x. Epub 2008 Oct 30.

PubMed [citation]

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001272314.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)


This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Apr 12, 2021

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