NM_014271.4(IL1RAPL1):c.911+12dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 20, 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:: RCV002995869.3

Allele description [Variation Report for NM_014271.4(IL1RAPL1):c.911+12dup]

NM_014271.4(IL1RAPL1):c.911+12dup

Gene:

IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp21.2

Genomic location:

Preferred name:

NM_014271.4(IL1RAPL1):c.911+12dup

HGVS:

NC_000023.11:g.29917608dup
NG_008292.2:g.1335045dup
NM_014271.4:c.911+12dupMANE SELECT
NC_000023.10:g.29935717_29935718insT
NC_000023.10:g.29935725dup

Molecular consequence:

NM_014271.4:c.911+12dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Escherichia coli O104:H4 str. 2011C-3493
Escherichia coli O104:H4 str. 2011C-3493
Escherichia coli O104:H4 str. 2011C-3493 RefSeq Genome

BioProject
PMC Links for Nucleotide (Select 12654692) (2)
PMC
Role
Role
The expected and characteristic pattern of behavior exhibited by an individual as a member of a particular social group.<br/>Year introduced: 1969

MeSH
Group Processes
Group Processes
The procedures through which a group approaches, attacks, and solves a common problem.<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003297244	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jul 20, 2022)	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

SCV003297244

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jul 20, 2022)

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, SCV003297244.2

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

#	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

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