NM_019616.4(F7):c.739+7_739+43del AND Congenital factor VII deficiency

Germline classification:: Uncertain significance (1 submission)
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:: RCV002222631.3

Allele description [Variation Report for NM_019616.4(F7):c.739+7_739+43del]

NM_019616.4(F7):c.739+7_739+43del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_019616.4(F7):c.739+7_739+43del

HGVS:

NC_000013.11:g.113117603_113117639del
NG_009262.1:g.16813_16849del
NM_000131.4:c.805+7_805+43del
NM_001267554.2:c.553+7_553+43del
NM_019616.4:c.739+7_739+43delMANE SELECT
LRG_554t1:c.805+7_805+43del
LRG_554:g.16813_16849del
NC_000013.10:g.113771917_113771953del
NM_000131.4:c.805+7_805+43delACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGT

Links:

dbSNP: rs1309684522

NCBI 1000 Genomes Browser:

rs1309684522

Molecular consequence:

NM_000131.4:c.805+7_805+43del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001267554.2:c.553+7_553+43del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_019616.4:c.739+7_739+43del - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Congenital factor VII deficiency
Identifiers:: MONDO: MONDO:0009211; MedGen: C0272320; Orphanet: 327; OMIM: 227500

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002500858	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34355501, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002500858

ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

unknown

clinical testing

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	unknown	yes	2	not provided	not provided	2	not provided	clinical testing

Citations

PubMed

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K.

J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. Erratum in: J Thromb Haemost. 2023 Apr;21(4):1067. doi: 10.1016/j.jtha.2023.01.021.

PubMed [citation]

PMID:: 34355501
PMCID:: PMC9291976

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

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002500858.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)
2	not provided	1	not provided	not provided	clinical testing	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
2	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 25, 2024

ClinVar

Relating variation to medicine