NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) AND Factor VII deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 1, 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:: RCV000852230.1

Allele description [Variation Report for NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del)]

NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del)

Gene:

F7:coagulation factor VII [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del)

HGVS:

NC_000013.11:g.113118424_113118438del
NG_009258.1:g.626_640del
NG_009262.1:g.17634_17648del
NM_000131.4:c.817_831del
NM_001267554.2:c.565_579del
NM_019616.4:c.751_765delMANE SELECT
NP_000122.1:p.Leu273_Asp277del
NP_001254483.1:p.Leu189_Asp193del
NP_062562.1:p.Leu251_Asp255del
LRG_554t1:c.817_831del
LRG_548:g.626_640del
LRG_554:g.17634_17648del
LRG_554p1:p.Leu273_Asp277del
NC_000013.10:g.113772738_113772752del
NM_000131.4:c.817_831delCTCAGCGAGCACGAC
NR_051961.2:n.835_849del

Links:

dbSNP: rs757743255

NCBI 1000 Genomes Browser:

rs757743255

Molecular consequence:

NM_000131.4:c.817_831del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001267554.2:c.565_579del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_019616.4:c.751_765del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_051961.2:n.835_849del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Factor VII deficiency
Synonyms:: Factor 7 deficiency; F7 deficiency; Hypoproconvertinemia
Identifiers:: MONDO: MONDO:0002244; MeSH: D005168; MedGen: C0015503

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000899952	NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 1, 2019)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31064749

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000899952

NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 1, 2019)

unknown

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
European	unknown	yes	1	not provided	not provided	1	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

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, et al.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PubMed [citation]

PMID:: 31064749
PMCID:: PMC6993014

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899952.1

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

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

Last Updated: Apr 23, 2022

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