NM_032415.7(CARD11):c.874C>T (p.Arg292Cys) AND Severe combined immunodeficiency due to CARD11 deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 28, 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:: RCV000987814.1

Allele description [Variation Report for NM_032415.7(CARD11):c.874C>T (p.Arg292Cys)]

NM_032415.7(CARD11):c.874C>T (p.Arg292Cys)

Gene:

CARD11:caspase recruitment domain family member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.2

Genomic location:

Preferred name:

NM_032415.7(CARD11):c.874C>T (p.Arg292Cys)

HGVS:

NC_000007.14:g.2938822G>A
NG_027759.1:g.110054C>T
NM_001324281.3:c.874C>T
NM_032415.7:c.874C>TMANE SELECT
NP_001311210.1:p.Arg292Cys
NP_115791.3:p.Arg292Cys
LRG_729t1:c.874C>T
LRG_729t2:c.874C>T
LRG_729:g.110054C>T
LRG_729p1:p.Arg292Cys
LRG_729p2:p.Arg292Cys
NC_000007.13:g.2978456G>A

Protein change:

R292C

Links:

dbSNP: rs771790639

NCBI 1000 Genomes Browser:

rs771790639

Molecular consequence:

NM_001324281.3:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032415.7:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Severe combined immunodeficiency due to CARD11 deficiency (IMD11A)
Synonyms:: Immunodeficiency 11; IMMUNODEFICIENCY 11A
Identifiers:: MONDO: MONDO:0014081; MedGen: C3554686; Orphanet: 357237; OMIM: 615206

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001137271	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001137271

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137271.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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