NM_000204.5(CFI):c.805G>A (p.Gly269Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 18, 2023
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:: RCV003555159.2

Allele description [Variation Report for NM_000204.5(CFI):c.805G>A (p.Gly269Ser)]

NM_000204.5(CFI):c.805G>A (p.Gly269Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_000204.5(CFI):c.805G>A (p.Gly269Ser)

HGVS:

NC_000004.12:g.109760348C>T
NG_007569.1:g.46638G>A
NM_000204.5:c.805G>AMANE SELECT
NM_001318057.2:c.805G>A
NM_001331035.2:c.805G>A
NM_001375278.1:c.805G>A
NM_001375279.1:c.805G>A
NM_001375280.1:c.805G>A
NM_001375281.1:c.805G>A
NM_001375282.1:c.805G>A
NM_001375283.1:c.805G>A
NM_001375284.1:c.196G>A
NP_000195.2:p.Gly269Ser
NP_000195.3:p.Gly269Ser
NP_001304986.2:p.Gly269Ser
NP_001317964.1:p.Gly269Ser
NP_001362207.1:p.Gly269Ser
NP_001362208.1:p.Gly269Ser
NP_001362209.1:p.Gly269Ser
NP_001362210.1:p.Gly269Ser
NP_001362211.1:p.Gly269Ser
NP_001362212.1:p.Gly269Ser
NP_001362213.1:p.Gly66Ser
LRG_48t1:c.805G>A
LRG_48:g.46638G>A
LRG_48p1:p.Gly269Ser
NC_000004.11:g.110681504C>T
NM_000204.3:c.805G>A
NR_164671.1:n.833G>A
NR_164672.1:n.833G>A
NR_164673.1:n.833G>A

Protein change:

G269S

Molecular consequence:

NM_000204.5:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318057.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001331035.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375278.1:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375279.1:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375280.1:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375281.1:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375282.1:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375283.1:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375284.1:c.196G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_164671.1:n.833G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164672.1:n.833G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164673.1:n.833G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004293220	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 18, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 28939980, 34169201, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004293220

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 18, 2023)

germline

clinical testing

PubMed (3)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.

Thergaonkar RW, Narang A, Gurjar BS, Tiwari P, Puraswani M, Saini H, Sinha A, Varma B, Mukerji M, Hari P, Bagga A.

Clin Exp Nephrol. 2018 Jun;22(3):653-660. doi: 10.1007/s10157-017-1478-6. Epub 2017 Sep 22.

PubMed [citation]

PMID:: 28939980

Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.

Ardissino G, Longhi S, Porcaro L, Pintarelli G, Strumbo B, Capone V, Cresseri D, Loffredo G, Tel F, Salardi S, Sgarbanti M, Martelli L, Rodrigues EM, Borsa-Ghiringhelli N, Montini G, Seia M, Cugno M, Carfagna F, Consonni D, Tedeschi S.

Kidney Int Rep. 2021 Jun;6(6):1614-1621. doi: 10.1016/j.ekir.2021.03.885.

PubMed [citation]

PMID:: 34169201
PMCID:: PMC8207326

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004293220.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 269 of the CFI protein (p.Gly269Ser). This variant is present in population databases (rs772561998, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 28939980, 34169201). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CFI protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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