NM_000204.5(CFI):c.1532C>T (p.Ala511Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 18, 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:: RCV003106046.5

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003781533	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 18, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003781533

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 18, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003781533.3

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

Description

This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 511 of the CFI protein (p.Ala511Val). This variant is present in population databases (rs760801046, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CFI-related conditions. ClinVar contains an entry for this variant (Variation ID: 625917). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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