NM_000204.5(CFI):c.904+99del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 10, 2018
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:: RCV001656389.2

Allele description [Variation Report for NM_000204.5(CFI):c.904+99del]

NM_000204.5(CFI):c.904+99del

Gene:

CFI:complement factor I [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_000204.5(CFI):c.904+99del

HGVS:

NC_000004.12:g.109757664del
NG_007569.1:g.49322del
NM_000204.5:c.904+99delMANE SELECT
NM_001318057.2:c.928+99del
NM_001331035.2:c.883+2606del
NM_001375278.1:c.928+99del
NM_001375279.1:c.904+99del
NM_001375280.1:c.883+2606del
NM_001375281.1:c.904+99del
NM_001375282.1:c.883+2606del
NM_001375283.1:c.883+2606del
NM_001375284.1:c.295+99del
LRG_48:g.49322del
NC_000004.11:g.110678820del

Links:

dbSNP: rs5860990

NCBI 1000 Genomes Browser:

rs5860990

Molecular consequence:

NM_000204.5:c.904+99del - intron variant - [Sequence Ontology: SO:0001627]
NM_001318057.2:c.928+99del - intron variant - [Sequence Ontology: SO:0001627]
NM_001331035.2:c.883+2606del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375278.1:c.928+99del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375279.1:c.904+99del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375280.1:c.883+2606del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375281.1:c.904+99del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375282.1:c.883+2606del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375283.1:c.883+2606del - intron variant - [Sequence Ontology: SO:0001627]
NM_001375284.1:c.295+99del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001862589	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Nov 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001862589

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Nov 10, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001862589.1

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

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

Last Updated: Dec 24, 2023

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