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NM_001167.4(XIAP):c.*5519del AND Lymphoproliferative disorder

Germline classification:
Benign (2 submissions)
Last evaluated:
Jun 14, 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:
RCV001731653.12

Allele description [Variation Report for NM_001167.4(XIAP):c.*5519del]

NM_001167.4(XIAP):c.*5519del

Gene:
XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq25
Genomic location:
Preferred name:
NM_001167.4(XIAP):c.*5519del
HGVS:
  • NC_000023.11:g.123912700del
  • NG_007264.1:g.57503del
  • NM_001167.4:c.*5519delMANE SELECT
  • NM_001204401.2:c.*5519del
  • NM_001378590.1:c.*5519del
  • NM_001378591.1:c.*5519del
  • NM_001378592.1:c.*5519del
  • LRG_19:g.57503del
  • NC_000023.10:g.123046550del
  • NM_001167.3:c.*5519delT
  • NR_037916.2:n.6377del
  • NR_165803.1:n.6359del
Links:
dbSNP: rs374013599
NCBI 1000 Genomes Browser:
rs374013599
Molecular consequence:
  • NM_001167.4:c.*5519del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001204401.2:c.*5519del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378590.1:c.*5519del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378591.1:c.*5519del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378592.1:c.*5519del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_037916.2:n.6377del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165803.1:n.6359del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Lymphoproliferative disorder
Synonyms:
Lymphoproliferative syndrome
Identifiers:
MONDO: MONDO:0016537; MedGen: C0024314; OMIM: PS308240; Human Phenotype Ontology: HP:0005523

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000481685Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000481687Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000481685.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV000481687.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024