NM_020661.4(AICDA):c.334C>T (p.Arg112Cys) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 5, 2015
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:: RCV000432589.1

Allele description [Variation Report for NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)]

NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)

Gene:

AICDA:activation induced cytidine deaminase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)

HGVS:

NC_000012.12:g.8605308G>A
NG_011588.1:g.12539C>T
NM_001330343.2:c.334C>T
NM_020661.3:c.334C>T
NM_020661.4:c.334C>TMANE SELECT
NP_001317272.1:p.Arg112Cys
NP_065712.1:p.Arg112Cys
LRG_17t1:c.334C>T
LRG_17:g.12539C>T
NC_000012.11:g.8757904G>A
NM_020661.2:c.334C>T

Protein change:

R112C

Links:

dbSNP: rs1057520542

NCBI 1000 Genomes Browser:

rs1057520542

Molecular consequence:

NM_001330343.2:c.334C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_020661.4:c.334C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV000515955	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 5, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000515955

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 5, 2015)

germline

clinical testing

Citation Link

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 GeneDx, SCV000515955.3

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

Description

The R112C variant in the AICDA gene has been reported previously in association with hyper-IgM syndrome (Minegishi et al., 2000). R112C was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In vitro function studies indicated that the R112C variant has no detectable substrate interaction (Mu et al., 2012). Therefore, this variant is considered pathogenic.

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine