NM_000204.5(CFI):c.1571A>G (p.Asp524Gly) AND Atypical hemolytic-uremic syndrome with I factor anomaly

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 4, 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:: RCV004555240.2

Allele description [Variation Report for NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)]

NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)

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.1571A>G (p.Asp524Gly)

HGVS:

NC_000004.12:g.109741074T>C
NG_007569.1:g.65912A>G
NM_000204.5:c.1571A>GMANE SELECT
NM_001318057.2:c.1595A>G
NM_001331035.2:c.1550A>G
NM_001375278.1:c.1558+1417A>G
NM_001375279.1:c.1534+1417A>G
NM_001375280.1:c.1513+1417A>G
NM_001375281.1:c.1534+1417A>G
NM_001375282.1:c.1513+1417A>G
NM_001375283.1:c.1514A>G
NM_001375284.1:c.962A>G
NP_000195.2:p.Asp524Gly
NP_000195.3:p.Asp524Gly
NP_001304986.2:p.Asp532Gly
NP_001317964.1:p.Asp517Gly
NP_001362212.1:p.Asp505Gly
NP_001362213.1:p.Asp321Gly
LRG_48t1:c.1571A>G
LRG_48:g.65912A>G
LRG_48p1:p.Asp524Gly
NC_000004.11:g.110662230T>C
NM_000204.3:c.1571A>G
NR_164671.1:n.1318A>G
NR_164672.1:n.1621A>G
NR_164673.1:n.1595A>G

Protein change:

D321G

Molecular consequence:

NM_001375278.1:c.1558+1417A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001375279.1:c.1534+1417A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001375280.1:c.1513+1417A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001375281.1:c.1534+1417A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001375282.1:c.1513+1417A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000204.5:c.1571A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318057.2:c.1595A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001331035.2:c.1550A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375283.1:c.1514A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375284.1:c.962A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164671.1:n.1318A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164672.1:n.1621A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164673.1:n.1595A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Atypical hemolytic-uremic syndrome with I factor anomaly
Synonyms:: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS, SUSCEPTIBILITY TO, 3; Atypical hemolytic-uremic syndrome 3
Identifiers:: MONDO: MONDO:0013041; MedGen: C2752039; Orphanet: 2134; OMIM: 612923

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005044213	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Likely pathogenic (May 4, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005044213

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Likely pathogenic
(May 4, 2023)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005044213.1

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

Description

ACMG Criteria: PP3_STR,PM5,PM2_SUP

#	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		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine