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NM_024675.4(PALB2):c.843_845del (p.Arg282del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 18, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000166474.6

Allele description [Variation Report for NM_024675.4(PALB2):c.843_845del (p.Arg282del)]

NM_024675.4(PALB2):c.843_845del (p.Arg282del)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.843_845del (p.Arg282del)
HGVS:
  • NC_000016.10:g.23635701_23635703del
  • NG_007406.1:g.10655_10657del
  • NM_024675.4:c.843_845delMANE SELECT
  • NP_078951.2:p.Arg282del
  • NP_078951.2:p.Arg282del
  • LRG_308t1:c.843_845del
  • LRG_308:g.10655_10657del
  • LRG_308p1:p.Arg282del
  • NC_000016.9:g.23647022_23647024del
  • NM_024675.3:c.843_845del
  • NM_024675.3:c.843_845delTAG
  • p.R282del
Protein change:
R282del
Links:
dbSNP: rs786203247
NCBI 1000 Genomes Browser:
rs786203247
Molecular consequence:
  • NM_024675.4:c.843_845del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000217271Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 18, 2022) 		germlineclinical testing

Citation Link,

SCV004357963Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 8, 2022) 		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

Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Kohli M, Tan W, Zheng T, Wang A, Montesinos C, Wong C, Du P, Jia S, Yadav S, Horvath LG, Mahon KL, Kwan EM, Fettke H, Yu J, Azad AA.

EBioMedicine. 2020 Apr;54:102728. doi: 10.1016/j.ebiom.2020.102728.

PubMed [citation]
PMID:
32268276
PMCID:
PMC7186589

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ambry Genetics, SCV000217271.7

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

Description

The c.843_845delTAG variant (also known as p.R282del) is located in coding exon 4 of the PALB2 gene. This variant results from an in-frame TAG deletion at nucleotide positions 843 to 845. This results in the in-frame deletion of an arginine at codon 282. The deleted amino acid position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From Color Diagnostics, LLC DBA Color Health, SCV004357963.1

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

Description

This variant causes the in-frame deletion of Arginine 282 in the PALB2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with prostate cancer (PMID: 32268276). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024