NM_032415.7(CARD11):c.3276_3277inv (p.Pro1093Ser) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 3, 2023
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:: RCV002937383.3

Allele description [Variation Report for NM_032415.7(CARD11):c.3276_3277inv (p.Pro1093Ser)]

NM_032415.7(CARD11):c.3276_3277inv (p.Pro1093Ser)

Gene:

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

Variant type:

Inversion

Cytogenetic location:

7p22.2

Genomic location:

Preferred name:

NM_032415.7(CARD11):c.3276_3277inv (p.Pro1093Ser)

HGVS:

NC_000007.14:g.2906826_2906827inv
NG_027759.1:g.142049_142050inv
NM_001324281.3:c.3276_3277inv
NM_032415.7:c.3276_3277invMANE SELECT
NP_001311210.1:p.Pro1093Ser
NP_115791.3:p.Pro1093Ser
LRG_729t1:c.3276_3277inv
LRG_729t2:c.3276_3277inv
LRG_729:g.142049_142050inv
LRG_729p1:p.Pro1093Ser
LRG_729p2:p.Pro1093Ser
NC_000007.13:g.2946460_2946461delinsAC
NC_000007.13:g.2946460_2946461inv

Protein change:

P1093S

Molecular consequence:

NM_001324281.3:c.3276_3277inv - missense variant - [Sequence Ontology: SO:0001583]
NM_032415.7:c.3276_3277inv - 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

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
SCV003258530	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 3, 2023)	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

SCV003258530

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 3, 2023)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003258530.2

#	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 2049988). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1093 of the CARD11 protein (p.Pro1093Ser).

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine