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NM_001171613.2(PREPL):c.888+1G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 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:
RCV003156281.1

Allele description [Variation Report for NM_001171613.2(PREPL):c.888+1G>A]

NM_001171613.2(PREPL):c.888+1G>A

Gene:
PREPL:prolyl endopeptidase like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_001171613.2(PREPL):c.888+1G>A
HGVS:
  • NC_000002.12:g.44338350C>T
  • NG_016429.1:g.28513G>A
  • NM_001042385.2:c.969+797G>A
  • NM_001042386.2:c.1155+1G>A
  • NM_001171603.1:c.1155+1G>A
  • NM_001171606.2:c.1155+1G>A
  • NM_001171613.2:c.888+1G>AMANE SELECT
  • NM_001171617.1:c.888+1G>A
  • NM_001374275.1:c.1155+1G>A
  • NM_001374276.1:c.1155+1G>A
  • NM_001374277.1:c.888+1G>A
  • NM_006036.4:c.1155+1G>A
  • NC_000002.11:g.44565489C>T
Links:
dbSNP: rs758019788
NCBI 1000 Genomes Browser:
rs758019788
Molecular consequence:
  • NM_001042385.2:c.969+797G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042386.2:c.1155+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001171603.1:c.1155+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001171606.2:c.1155+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001171613.2:c.888+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001171617.1:c.888+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374275.1:c.1155+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374276.1:c.1155+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374277.1:c.888+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_006036.4:c.1155+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003845802GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 22, 2022) 		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, SCV003845802.1

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

Description

Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)

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

Last Updated: Sep 29, 2024