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NM_001042618.2(PARP2):c.455G>A (p.Cys152Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 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:
RCV004131240.1

Allele description [Variation Report for NM_001042618.2(PARP2):c.455G>A (p.Cys152Tyr)]

NM_001042618.2(PARP2):c.455G>A (p.Cys152Tyr)

Gene:
PARP2:poly(ADP-ribose) polymerase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001042618.2(PARP2):c.455G>A (p.Cys152Tyr)
HGVS:
  • NC_000014.9:g.20351080G>A
  • NG_033959.1:g.12467G>A
  • NM_001042618.2:c.455G>AMANE SELECT
  • NM_005484.4:c.494G>A
  • NP_001036083.1:p.Cys152Tyr
  • NP_005475.2:p.Cys165Tyr
  • NC_000014.8:g.20819239G>A
  • NM_005484.3:c.494G>A
Protein change:
C152Y
Molecular consequence:
  • NM_001042618.2:c.455G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005484.4:c.494G>A - 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
SCV003607457Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 11, 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, SCV003607457.2

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

Description

The c.494G>A (p.C165Y) alteration is located in exon 6 (coding exon 6) of the PARP2 gene. This alteration results from a G to A substitution at nucleotide position 494, causing the cysteine (C) at amino acid position 165 to be replaced by a tyrosine (Y). 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