NM_172351.3(CD46):c.191G>T (p.Cys64Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 28, 2022
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:: RCV003096129.3

Allele description [Variation Report for NM_172351.3(CD46):c.191G>T (p.Cys64Phe)]

NM_172351.3(CD46):c.191G>T (p.Cys64Phe)

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.191G>T (p.Cys64Phe)

HGVS:

NC_000001.11:g.207757107G>T
NG_009296.1:g.10051G>T
NM_002389.4:c.191G>T
NM_153826.4:c.191G>T
NM_172350.3:c.191G>T
NM_172351.3:c.191G>TMANE SELECT
NM_172352.3:c.191G>T
NM_172353.3:c.191G>T
NM_172355.3:c.191G>T
NM_172356.3:c.191G>T
NM_172357.3:c.191G>T
NM_172358.3:c.191G>T
NM_172359.3:c.191G>T
NM_172361.3:c.191G>T
NP_002380.3:p.Cys64Phe
NP_722548.1:p.Cys64Phe
NP_758860.1:p.Cys64Phe
NP_758861.1:p.Cys64Phe
NP_758862.1:p.Cys64Phe
NP_758863.1:p.Cys64Phe
NP_758865.1:p.Cys64Phe
NP_758866.1:p.Cys64Phe
NP_758867.1:p.Cys64Phe
NP_758868.1:p.Cys64Phe
NP_758869.1:p.Cys64Phe
NP_758871.1:p.Cys64Phe
LRG_155t1:c.191G>T
LRG_155:g.10051G>T
LRG_155p1:p.Cys64Phe
NC_000001.10:g.207930452G>T

Protein change:

C64F

Links:

dbSNP: rs1655633353

NCBI 1000 Genomes Browser:

rs1655633353

Molecular consequence:

NM_002389.4:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_153826.4:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172350.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172351.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172352.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172353.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172355.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172356.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172357.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172358.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172359.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172361.3:c.191G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003523950	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 28, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19376828, 24005975, 26559391, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003523950

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 28, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two cases.

Kwon T, Belot A, Ranchin B, Baudouin V, Fremeaux-Bacchi V, Dragon-Durey MA, Cochat P, Loirat C.

Nephrol Dial Transplant. 2009 Sep;24(9):2752-4. doi: 10.1093/ndt/gfp166. Epub 2009 Apr 17.

PubMed [citation]

PMID:: 19376828

Rapid recovery of membrane cofactor protein (MCP; CD46) associated atypical haemolytic uraemic syndrome with plasma exchange.

Reid VL, Mullan A, Erwig LP.

BMJ Case Rep. 2013 Sep 4;2013. doi: 10.1136/bcr-2013-200980.

PubMed [citation]

PMID:: 24005975
PMCID:: PMC3794262

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003523950.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CD46 protein function. ClinVar contains an entry for this variant (Variation ID: 1698741). This missense change has been observed in individual(s) with clinical features of atypical hemolytic uremic syndrome (PMID: 19376828, 24005975, 26559391). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 64 of the CD46 protein (p.Cys64Phe).

#	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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