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NM_001569.4(IRAK1):c.1303-2A>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 4, 2020
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:
RCV001260500.1

Allele description [Variation Report for NM_001569.4(IRAK1):c.1303-2A>G]

NM_001569.4(IRAK1):c.1303-2A>G

Gene:
IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001569.4(IRAK1):c.1303-2A>G
HGVS:
  • NC_000023.11:g.154014280T>C
  • NG_008387.1:g.10612A>G
  • NM_001025242.2:c.1303-2A>G
  • NM_001025243.2:c.1303-847A>G
  • NM_001410701.1:c.1381-2A>G
  • NM_001569.4:c.1303-2A>GMANE SELECT
  • NC_000023.10:g.153279731T>C
  • NM_001569.3:c.1303-2A>G
Links:
dbSNP: rs2065723451
NCBI 1000 Genomes Browser:
rs2065723451
Molecular consequence:
  • NM_001025243.2:c.1303-847A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001025242.2:c.1303-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001410701.1:c.1381-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001569.4:c.1303-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001437521Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 4, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV001437521.1

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

Description

A hemizygous c.1303-2A>G variant in IRAK1 was detected in this individual. This variant affects the canonical splice acceptor site of intron 10 of 13, and is therefore predicted to interfere with splicing and result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Multiple splice prediction tools suggest this variant is likely to interfere with normal splicing. The IRAK1 gene is highly intolerant of loss of function variants (pLI: 1.00). Based on the available evidence, the c.1303-2A>G variant is classified as a Variant of Uncertain Significance

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

Last Updated: Jun 10, 2023