Single allele AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 12, 2023
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:: RCV003448688.1

Allele description [Variation Report for Single allele]

Gene:: SNRPN:small nuclear ribonucleoprotein polypeptide N [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 15q11.2
Genomic location:: Chr15: 25064951 - 25084452 (on Assembly GRCh37)

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004176330	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL CNVClassificationCriteria Aug2020)	Uncertain significance (Sep 12, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004176330

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL CNVClassificationCriteria Aug2020)

Uncertain significance
(Sep 12, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004176330.1

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

Description

This CNV is a 19.5 kb deletion of 15q11.2 on chromosome 15, seq[GRCh37]del(15)(q11.2), NC_000015.9:g.25064951_25084452del. This CNV encompasses an upstream region, exon one and part of the first intron of the longest (canonical) transcript of the SNRPN gene, NM_022806.3. This region does not overlap with the Prader-Willi syndrome (PWS) imprinting center (IC) (PMID: 9973278; 20301505; 22237428; 28554868; 29437285). A similar deletion, which was paternally inherited, has been described in an individual with features consistent with PWS (PMID: 27659333). Similar deletions have been reported in controls but not demonstrated to be paternally derived (PMID: 21841781; 24174537). A similar deletion has been observed at a frequency of 0.00965 in the African/African American population of the Genome Aggregation Database (gnomAD SVs version 2.1). Based on the available evidence, this CNV is classified as a variant of uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 17, 2023

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