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NM_015045.5(WAPL):c.3133C>T (p.Arg1045Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV004138082.1

Allele description [Variation Report for NM_015045.5(WAPL):c.3133C>T (p.Arg1045Trp)]

NM_015045.5(WAPL):c.3133C>T (p.Arg1045Trp)

Gene:
WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_015045.5(WAPL):c.3133C>T (p.Arg1045Trp)
HGVS:
  • NC_000010.11:g.86446431G>A
  • NM_001318328.2:c.3115C>T
  • NM_015045.5:c.3133C>TMANE SELECT
  • NP_001305257.1:p.Arg1039Trp
  • NP_055860.1:p.Arg1045Trp
  • NC_000010.10:g.88206188G>A
  • NM_015045.2:c.3133C>T
Protein change:
R1039W
Molecular consequence:
  • NM_001318328.2:c.3115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015045.5:c.3133C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003608645Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003608645.2

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

Description

The c.3133C>T (p.R1045W) alteration is located in exon 16 (coding exon 15) of the WAPL gene. This alteration results from a C to T substitution at nucleotide position 3133, causing the arginine (R) at amino acid position 1045 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024