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NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 11, 2024
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:
RCV000454229.5

Allele description [Variation Report for NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)]

NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)

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.1047_1050del (p.Asn349fs)
HGVS:
  • NC_000016.10:g.23635498_23635501del
  • NG_007406.1:g.10859_10862del
  • NM_024675.4:c.1047_1050delMANE SELECT
  • NP_078951.2:p.Asn349fs
  • LRG_308:g.10859_10862del
  • NC_000016.9:g.23646817_23646820del
  • NC_000016.9:g.23646819_23646822del
  • NM_024675.3:c.1047_1050delTCAA
Protein change:
N349fs
Links:
dbSNP: rs1060499813
NCBI 1000 Genomes Browser:
rs1060499813
Molecular consequence:
  • NM_024675.4:c.1047_1050del - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000538134Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 11, 2024) 		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, SCV000538134.8

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

Description

The c.1047_1050delTCAA pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a deletion of 4 nucleotides at nucleotide positions 1047 to 1050, causing a translational frameshift with a predicted alternate stop codon (p.N349Kfs*6). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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