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NM_001143992.2(WRAP53):c.224_227del (p.Leu75fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 10, 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:
RCV003733699.1

Allele description

NM_001143992.2(WRAP53):c.224_227del (p.Leu75fs)

Gene:
WRAP53:WD repeat containing antisense to TP53 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001143992.2(WRAP53):c.224_227del (p.Leu75fs)
HGVS:
  • NC_000017.11:g.7688868TC[2]
  • NG_017013.2:g.3676GA[2]
  • NG_028245.1:g.7798TC[2]
  • NM_001143990.2:c.224_227del
  • NM_001143991.2:c.224_227del
  • NM_001143992.2:c.224_227delMANE SELECT
  • NM_018081.2:c.224_227del
  • NP_001137462.1:p.Leu75fs
  • NP_001137463.1:p.Leu75fs
  • NP_001137464.1:p.Leu75fs
  • NP_060551.2:p.Leu75fs
  • LRG_375t1:c.224_227del
  • LRG_321:g.3676GA[2]
  • LRG_375:g.7798TC[2]
  • LRG_375p1:p.Leu75fs
  • NC_000017.10:g.7592186TC[2]
  • NC_000017.10:g.7592186_7592189del
Protein change:
L75fs
Molecular consequence:
  • NM_001143990.2:c.224_227del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001143991.2:c.224_227del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001143992.2:c.224_227del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018081.2:c.224_227del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004530849Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 10, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Diaphyseal and Metaphyseal Modeling Defects-Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia.

Hao Y, Wang XL, Xiao J, Jiao CL, Meng XY, Guo JC, Shao JF, Feng JX, He JP.

Front Genet. 2021;12:684905. doi: 10.3389/fgene.2021.684905.

PubMed [citation]
PMID:
34484289
PMCID:
PMC8416243

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004530849.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This premature translational stop signal has been observed in individual(s) with craniometadiaphyseal dysplasia (PMID: 34484289). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Leu75Profs*14) in the WRAP53 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in WRAP53 cause disease.

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

Last Updated: Feb 28, 2024