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NM_000204.4(CFI):c.782G>A (p.Gly261Asp)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000065580.8
Variation ID:
65580
Description:
single nucleotide variant
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NM_000204.4(CFI):c.782G>A (p.Gly261Asp)

Allele ID
76488
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q25
Genomic location
4: 109760371 (GRCh38) GRCh38 UCSC
4: 110681527 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.110681527C>T
NC_000004.12:g.109760371C>T
NG_007569.1:g.46615G>A
... more HGVS
Protein change
G261D
Other names
-
Canonical SPDI
NC_000004.12:109760370:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00136
1000 Genomes Project 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00169
The Genome Aggregation Database (gnomAD) 0.00115
Exome Aggregation Consortium (ExAC) 0.00133
Trans-Omics for Precision Medicine (TOPMed) 0.00158
Links
ClinGen: CA344907
dbSNP: rs112534524
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Apr 27, 2017 RCV000055784.3
Likely benign 3 criteria provided, single submitter Oct 27, 2020 RCV000892174.5
Likely benign 1 criteria provided, single submitter May 28, 2020 RCV001171354.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFI - - GRCh38
GRCh37
149 160

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 28, 2020)
criteria provided, single submitter
Method: research
Chronic kidney disease
(Autosomal dominant inheritance)
Allele origin: unknown
Cavalleri Lab, Royal College of Surgeons in Ireland
Accession: SCV001328301.1
Submitted: (May 28, 2020)
Evidence details
Comment:
PP3, BP6, BS1
Likely benign
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001036036.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Atypical hemolytic-uremic syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000446883.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
pathologic
(Aug 08, 2013)
no assertion criteria provided
Method: curation
Atypical Hemolytic-Uremic Syndrome
Allele origin: not provided
GeneReviews
Accession: SCV000086750.1
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001927386.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952346.1
Submitted: (Sep 30, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Genetic Atypical Hemolytic-Uremic Syndrome Noris M - 2021 PMID: 20301541
A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation. Nilsson SC Molecular immunology 2007 PMID: 17084897

Text-mined citations for rs112534524...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 02, 2021