NM_000130.5(F5):c.1119-14dup AND Congenital factor V deficiency

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 19, 2024
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:: RCV003763488.2

Allele description [Variation Report for NM_000130.5(F5):c.1119-14dup]

NM_000130.5(F5):c.1119-14dup

Gene:

F5:coagulation factor V [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q24.2

Genomic location:

Preferred name:

NM_000130.5(F5):c.1119-14dup

HGVS:

NC_000001.11:g.169552756dup
NG_011806.1:g.38784dup
NM_000130.5:c.1119-14dupMANE SELECT
LRG_553:g.38784dup
NC_000001.10:g.169521985_169521986insA
NC_000001.10:g.169521994dup

Molecular consequence:

NM_000130.5:c.1119-14dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Congenital factor V deficiency
Synonyms:: LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009210; MedGen: C0015499; OMIM: 227400

Recent activity

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Wingless-related MMTV integration site 16 [Mus musculus]
Wingless-related MMTV integration site 16 [Mus musculus]
gi|109732463|gb|AAI15926.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004475608	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 19, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004475608

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 19, 2024)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004475608.1

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

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

Last Updated: Sep 29, 2024

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