NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) AND Atypical hemolytic-uremic syndrome with C3 anomaly

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 3, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001280826.2

Allele description [Variation Report for NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)]

NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)

Gene:

C3:complement C3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)

HGVS:

NC_000019.10:g.6686197_6686198del
NG_009557.1:g.39455_39456del
NM_000064.4:c.3737_3738delMANE SELECT
NP_000055.2:p.Asp1245_Phe1246insTer
LRG_27:g.39455_39456del
NC_000019.9:g.6686207_6686208del
NC_000019.9:g.6686208_6686209del
NM_000064.3:c.3737_3738del

Links:

dbSNP: rs1568212112

NCBI 1000 Genomes Browser:

rs1568212112

Molecular consequence:

NM_000064.4:c.3737_3738del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Atypical hemolytic-uremic syndrome with C3 anomaly
Synonyms:: AHUS, SUSCEPTIBILITY TO, 5; Atypical hemolytic-uremic syndrome 5
Identifiers:: MONDO: MONDO:0013043; MedGen: C2752037; Orphanet: 2134; OMIM: 612925

Recent activity

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ventral anterior homeobox 1 isoform a [Homo sapiens]
ventral anterior homeobox 1 isoform a [Homo sapiens]
gi|162951873|ref|NP_001106175.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001468167	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Pathogenic (Jan 3, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001468167

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Pathogenic
(Jan 3, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV001468167.1

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

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

Last Updated: Sep 29, 2024

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