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NM_032790.4(ORAI1):c.303+17C>T AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 2022
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:
RCV003090938.10

Allele description [Variation Report for NM_032790.4(ORAI1):c.303+17C>T]

NM_032790.4(ORAI1):c.303+17C>T

Genes:
LOC130008987:ATAC-STARR-seq lymphoblastoid silent region 4981 [Gene]
ORAI1:ORAI calcium release-activated calcium modulator 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_032790.4(ORAI1):c.303+17C>T
HGVS:
  • NC_000012.12:g.121627067C>T
  • NG_007500.1:g.5493C>T
  • NG_187556.1:g.758C>T
  • NM_032790.4:c.303+17C>TMANE SELECT
  • LRG_93:g.5493C>T
  • NC_000012.11:g.122064973C>T
Molecular consequence:
  • NM_032790.4:c.303+17C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Combined immunodeficiency due to ORAI1 deficiency
Synonyms:
Immune dysfunction with T-cell inactivation due to calcium entry defect 1; IMMUNODEFICIENCY 9
Identifiers:
MONDO: MONDO:0013007; MedGen: C2748568; Orphanet: 169090; Orphanet: 317428; OMIM: 612782
Name:
Myopathy, tubular aggregate, 2 (TAM2)
Identifiers:
MONDO: MONDO:0014383; MedGen: C4014557; OMIM: 615883

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003467659Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 13, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV003467659.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change falls in intron 1 of the ORAI1 gene. It does not directly change the encoded amino acid sequence of the ORAI1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ORAI1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024