NM_172351.3(CD46):c.83del (p.Leu28fs) AND Atypical hemolytic-uremic syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2020
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:: RCV002294714.2

Allele description [Variation Report for NM_172351.3(CD46):c.83del (p.Leu28fs)]

NM_172351.3(CD46):c.83del (p.Leu28fs)

Genes:

LOC129932405:ATAC-STARR-seq lymphoblastoid active region 2449 [Gene]
CD46:CD46 molecule [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q32.2

Genomic location:

Preferred name:

NM_172351.3(CD46):c.83del (p.Leu28fs)

HGVS:

NC_000001.11:g.207752295del
NG_009296.1:g.5239del
NM_002389.4:c.83del
NM_153826.4:c.83del
NM_172350.3:c.83del
NM_172351.3:c.83delMANE SELECT
NM_172352.3:c.83del
NM_172353.3:c.83del
NM_172355.3:c.83del
NM_172356.3:c.83del
NM_172357.3:c.83del
NM_172358.3:c.83del
NM_172359.3:c.83del
NM_172361.3:c.83del
NP_002380.3:p.Leu28fs
NP_722548.1:p.Leu28fs
NP_758860.1:p.Leu28fs
NP_758861.1:p.Leu28fs
NP_758862.1:p.Leu28fs
NP_758863.1:p.Leu28fs
NP_758865.1:p.Leu28fs
NP_758866.1:p.Leu28fs
NP_758867.1:p.Leu28fs
NP_758868.1:p.Leu28fs
NP_758869.1:p.Leu28fs
NP_758871.1:p.Leu28fs
LRG_155t1:c.83del
LRG_155:g.5239del
LRG_155p1:p.Leu28fs
NC_000001.10:g.207925640del
NM_002389.4:c.83delT

Protein change:

L28fs

Molecular consequence:

NM_002389.4:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153826.4:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172350.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172351.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172352.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172353.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172355.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172356.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172357.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172358.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172359.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_172361.3:c.83del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Atypical hemolytic-uremic syndrome
Synonyms:: Atypical HUS
Identifiers:: MONDO: MONDO:0016244; MedGen: C2931788

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002587697	Genome Diagnostics Laboratory, The Hospital for Sick Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2020)	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

SCV002587697

Genome Diagnostics Laboratory, The Hospital for Sick Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2020)

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

Nothing to display

Details of each submission

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002587697.1

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

#	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: Oct 14, 2023

ClinVar

Relating variation to medicine