NM_000204.4(CFI):c.782G>A (p.Gly261Asp) AND not provided

Clinical significance:Likely benign (Last evaluated: Oct 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000892174.5

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001036036Invitaecriteria provided, single submitter
Likely benign
(Oct 27, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001927386Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

SCV001952346Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001036036.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927386.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001952346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 2, 2021

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