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NM_014271.4(IL1RAPL1):c.911+6T>C AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 29, 2016
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:
RCV000417922.1

Allele description [Variation Report for NM_014271.4(IL1RAPL1):c.911+6T>C]

NM_014271.4(IL1RAPL1):c.911+6T>C

Gene:
IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_014271.4(IL1RAPL1):c.911+6T>C
HGVS:
  • NC_000023.11:g.29917602T>C
  • NG_008292.1:g.1335039T>C
  • NG_008292.2:g.1335039T>C
  • NM_014271.4:c.911+6T>CMANE SELECT
  • NC_000023.10:g.29935719T>C
  • NM_014271.3:c.911+6T>C
Links:
dbSNP: rs760355758
NCBI 1000 Genomes Browser:
rs760355758
Molecular consequence:
  • NM_014271.4:c.911+6T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000522480GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jan 29, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000522480.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022