NM_000204.4(CFI):c.782G>A (p.Gly261Asp) AND Atypical hemolytic-uremic syndrome 3

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000055784.3

Allele description [Variation Report for NM_000204.4(CFI):c.782G>A (p.Gly261Asp)]

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

Gene:
CFI:complement factor I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q25
Genomic location:
Preferred name:
NM_000204.4(CFI):c.782G>A (p.Gly261Asp)
HGVS:
  • NC_000004.12:g.109760371C>T
  • NG_007569.1:g.46615G>A
  • NM_000204.4:c.782G>A
  • NM_001318057.2:c.782G>A
  • NM_001331035.2:c.782G>A
  • NP_000195.2:p.Gly261Asp
  • NP_001304986.2:p.Gly261Asp
  • NP_001317964.1:p.Gly261Asp
  • LRG_48t1:c.782G>A
  • LRG_48:g.46615G>A
  • NC_000004.11:g.110681527C>T
  • NM_000204.2:c.782G>A
  • NM_000204.3:c.782G>A
  • p.G261D
Protein change:
G261D
Links:
dbSNP: rs112534524
NCBI 1000 Genomes Browser:
rs112534524
Molecular consequence:
  • NM_000204.4:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318057.2:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001331035.2:c.782G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atypical hemolytic-uremic syndrome 3 (AHUS3)
Synonyms:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS, SUSCEPTIBILITY TO, 3
Identifiers:
MONDO: MONDO:0013041; MedGen: C2752039; Orphanet: 2134; OMIM: 612923

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000086750GeneReviewsno assertion criteria providedpathologic
(Aug 8, 2013)
not providedcuration

SCV000446883Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000086750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV000446883.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 2, 2021

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