NM_172351.3(CD46):c.469T>C (p.Cys157Arg) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 6, 2019
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:: RCV001507528.5

Allele description [Variation Report for NM_172351.3(CD46):c.469T>C (p.Cys157Arg)]

NM_172351.3(CD46):c.469T>C (p.Cys157Arg)

Gene:

CD46:CD46 molecule [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.2

Genomic location:

Preferred name:

NM_172351.3(CD46):c.469T>C (p.Cys157Arg)

HGVS:

NC_000001.11:g.207759718T>C
NG_009296.1:g.12662T>C
NM_002389.4:c.469T>C
NM_153826.4:c.469T>C
NM_172350.3:c.469T>C
NM_172351.3:c.469T>CMANE SELECT
NM_172352.3:c.469T>C
NM_172353.3:c.469T>C
NM_172355.3:c.469T>C
NM_172356.3:c.469T>C
NM_172357.3:c.469T>C
NM_172358.3:c.469T>C
NM_172359.3:c.469T>C
NM_172361.3:c.469T>C
NP_002380.3:p.Cys157Arg
NP_722548.1:p.Cys157Arg
NP_758860.1:p.Cys157Arg
NP_758861.1:p.Cys157Arg
NP_758862.1:p.Cys157Arg
NP_758863.1:p.Cys157Arg
NP_758865.1:p.Cys157Arg
NP_758866.1:p.Cys157Arg
NP_758867.1:p.Cys157Arg
NP_758868.1:p.Cys157Arg
NP_758869.1:p.Cys157Arg
NP_758871.1:p.Cys157Arg
LRG_155t1:c.469T>C
LRG_155:g.12662T>C
LRG_155p1:p.Cys157Arg
NC_000001.10:g.207933063T>C
p.Cys157Arg

Protein change:

C157R

Links:

dbSNP: rs2102552865

NCBI 1000 Genomes Browser:

rs2102552865

Molecular consequence:

NM_002389.4:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153826.4:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172350.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172351.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172352.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172353.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172355.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172356.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172357.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172358.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172359.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172361.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001713128	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 6, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29500241, 27268256, 25741868 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001713128

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 6, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ.

J Immunol. 2018 Apr 1;200(7):2464-2478. doi: 10.4049/jimmunol.1701695. Epub 2018 Mar 2.

PubMed [citation]

PMID:: 29500241
PMCID:: PMC6324840

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

Gleeson PJ, Wilson V, Cox TE, Sharma SD, Smith-Jackson K, Strain L, Lappin D, McHale T, Kavanagh D, Goodship TH.

Immunobiology. 2016 Oct;221(10):1124-30. doi: 10.1016/j.imbio.2016.05.002. Epub 2016 May 10.

PubMed [citation]

PMID:: 27268256

See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713128.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

PS4_moderate, PM2, PM5, PP3

#	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		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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