NM_032415.7(CARD11):c.3213dup (p.Ile1072fs) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 24, 2021
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:: RCV001899930.3

Allele description

NM_032415.7(CARD11):c.3213dup (p.Ile1072fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7p22.2

Genomic location:

Preferred name:

NM_032415.7(CARD11):c.3213dup (p.Ile1072fs)

HGVS:

NC_000007.14:g.2910100dup
NG_027759.1:g.138779dup
NM_001324281.3:c.3213dup
NM_032415.7:c.3213dupMANE SELECT
NP_001311210.1:p.Ile1072fs
NP_115791.3:p.Ile1072fs
LRG_729t1:c.3213dup
LRG_729t2:c.3213dup
LRG_729:g.138779dup
LRG_729p1:p.Ile1072fs
LRG_729p2:p.Ile1072fs
NC_000007.13:g.2949730_2949731insG
NC_000007.13:g.2949734dup

Protein change:

I1072fs

Links:

dbSNP: rs2115023098

NCBI 1000 Genomes Browser:

rs2115023098

Molecular consequence:

NM_001324281.3:c.3213dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032415.7:c.3213dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Name:: BENTA disease
Synonyms:: B-cell expansion with NFKB and T-cell anergy
Identifiers:: MONDO: MONDO:0014645; MedGen: C4551967; OMIM: 616452

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002121472	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 24, 2021)	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

SCV002121472

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 24, 2021)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002121472.3

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

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. This variant has not been reported in the literature in individuals with CARD11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1072Hisfs*9) in the CARD11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acid(s) of the CARD11 protein.

#	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: Feb 28, 2024

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