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NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 21, 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:
RCV002386638.2

Allele description [Variation Report for NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)]

NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)
HGVS:
  • NC_000016.10:g.23635559_23635560dup
  • NG_007406.1:g.10798_10799dup
  • NM_024675.4:c.986_987dupMANE SELECT
  • NP_078951.2:p.Asn330Ter
  • LRG_308t1:c.986_987dup
  • LRG_308:g.10798_10799dup
  • NC_000016.9:g.23646879_23646880insTA
  • NC_000016.9:g.23646880_23646881dup
  • NM_024675.3:c.986_987dupTA
Protein change:
N330*
Links:
dbSNP: rs2142429230
NCBI 1000 Genomes Browser:
rs2142429230
Molecular consequence:
  • NM_024675.4:c.986_987dup - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002695780Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 21, 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, SCV002695780.2

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

Description

The c.986_987dupTA pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a duplication of TA at nucleotide position 986, causing a translational frameshift with a predicted alternate stop codon (p.N330*). 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