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NM_024675.4(PALB2):c.481_482del (p.Asp161fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 14, 2019
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:
RCV001023095.4

Allele description [Variation Report for NM_024675.4(PALB2):c.481_482del (p.Asp161fs)]

NM_024675.4(PALB2):c.481_482del (p.Asp161fs)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.481_482del (p.Asp161fs)
HGVS:
  • NC_000016.10:g.23636064TC[3]
  • NC_000016.10:g.23636064_23636065TC[3]
  • NG_007406.1:g.10287GA[3]
  • NM_024675.4:c.481_482delMANE SELECT
  • NP_078951.2:p.Asp161fs
  • LRG_308t1:c.481_482del
  • LRG_308:g.10287GA[3]
  • NC_000016.9:g.23647385TC[3]
  • NC_000016.9:g.23647385_23647386del
  • NM_024675.3:c.481_482del
  • NM_024675.3:c.481_482delGA
Protein change:
D161fs
Links:
dbSNP: rs1597099149
NCBI 1000 Genomes Browser:
rs1597099149
Molecular consequence:
  • NM_024675.4:c.481_482del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001184917Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 14, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

Desmond A, Kurian AW, Gabree M, Mills MA, Anderson MJ, Kobayashi Y, Horick N, Yang S, Shannon KM, Tung N, Ford JM, Lincoln SE, Ellisen LW.

JAMA Oncol. 2015 Oct;1(7):943-51. doi: 10.1001/jamaoncol.2015.2690.

PubMed [citation]
PMID:
26270727

Details of each submission

From Ambry Genetics, SCV001184917.4

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

Description

The c.481_482delGA pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a deletion of two nucleotides at nucleotide positions 481 to 482, causing a translational frameshift with a predicted alternate stop codon (p.D161Lfs*6). This mutation has been reported in an individual with a personal and family history of breast cancer tested as part of a cohort of 1046 individuals who were appropriate candidates for hereditary breast and ovarian cancer syndrome (HBOC) evaluation and who lacked BRCA1/2 mutations (Desmond A et al. JAMA Oncol, 2015 Oct;1:943-51). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024