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NM_000204.5(CFI):c.1532C>T (p.Ala511Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 31, 2018
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:
RCV000767928.1

Allele description [Variation Report for NM_000204.5(CFI):c.1532C>T (p.Ala511Val)]

NM_000204.5(CFI):c.1532C>T (p.Ala511Val)

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.1532C>T (p.Ala511Val)
HGVS:
  • NC_000004.12:g.109742493G>A
  • NG_007569.1:g.64493C>T
  • NM_000204.5:c.1532C>TMANE SELECT
  • NM_001318057.2:c.1556C>T
  • NM_001331035.2:c.1511C>T
  • NM_001375278.1:c.1556C>T
  • NM_001375279.1:c.1532C>T
  • NM_001375280.1:c.1511C>T
  • NM_001375281.1:c.1532C>T
  • NM_001375282.1:c.1511C>T
  • NM_001375283.1:c.1475C>T
  • NM_001375284.1:c.923C>T
  • NP_000195.3:p.Ala511Val
  • NP_001304986.2:p.Ala519Val
  • NP_001317964.1:p.Ala504Val
  • NP_001362207.1:p.Ala519Val
  • NP_001362208.1:p.Ala511Val
  • NP_001362209.1:p.Ala504Val
  • NP_001362210.1:p.Ala511Val
  • NP_001362211.1:p.Ala504Val
  • NP_001362212.1:p.Ala492Val
  • NP_001362213.1:p.Ala308Val
  • LRG_48:g.64493C>T
  • NC_000004.11:g.110663649G>A
  • NR_164671.1:n.1279C>T
  • NR_164672.1:n.1582C>T
  • NR_164673.1:n.1556C>T
Protein change:
A308V
Links:
dbSNP: rs760801046
NCBI 1000 Genomes Browser:
rs760801046
Molecular consequence:
  • NM_000204.5:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318057.2:c.1556C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001331035.2:c.1511C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375278.1:c.1556C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375279.1:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375280.1:c.1511C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375281.1:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375282.1:c.1511C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375283.1:c.1475C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375284.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164671.1:n.1279C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164672.1:n.1582C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164673.1:n.1556C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Afibrinogenemia
Identifiers:
MeSH: D000347; MedGen: C0001733; Orphanet: 200418; Human Phenotype Ontology: HP:0034287
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
Name:
Age related macular degeneration 13
Identifiers:
MONDO: MONDO:0014189; MedGen: C3809523; OMIM: 615439

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000898593Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 31, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000898593.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

CFI NM_000204.4 exon 12 p.Ala511Val (c.1532C>T): This variant has not been reported in the literature, but it is present in 9/33514 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/4-110663649-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, the data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Sep 29, 2024