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NM_001270454.2(WWP2):c.2216A>G (p.Tyr739Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 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:
RCV004139715.1

Allele description [Variation Report for NM_001270454.2(WWP2):c.2216A>G (p.Tyr739Cys)]

NM_001270454.2(WWP2):c.2216A>G (p.Tyr739Cys)

Gene:
WWP2:WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_001270454.2(WWP2):c.2216A>G (p.Tyr739Cys)
HGVS:
  • NC_000016.10:g.69937216A>G
  • NM_001270453.2:c.1868A>G
  • NM_001270454.2:c.2216A>GMANE SELECT
  • NM_007014.5:c.2216A>G
  • NM_199424.3:c.899A>G
  • NP_001257382.1:p.Tyr623Cys
  • NP_001257383.1:p.Tyr739Cys
  • NP_008945.2:p.Tyr739Cys
  • NP_955456.1:p.Tyr300Cys
  • NC_000016.9:g.69971119A>G
  • NM_007014.3:c.2216A>G
Protein change:
Y300C
Molecular consequence:
  • NM_001270453.2:c.1868A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270454.2:c.2216A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007014.5:c.2216A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199424.3:c.899A>G - 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
SCV003621704Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 25, 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, SCV003621704.2

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

Description

The c.2216A>G (p.Y739C) alteration is located in exon 21 (coding exon 19) of the WWP2 gene. This alteration results from a A to G substitution at nucleotide position 2216, causing the tyrosine (Y) at amino acid position 739 to be replaced by a cysteine (C). 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: Nov 10, 2024