NM_024675.4(PALB2):c.1011dup (p.Pro338fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 21, 2023
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:: RCV003389273.1

Allele description [Variation Report for NM_024675.4(PALB2):c.1011dup (p.Pro338fs)]

NM_024675.4(PALB2):c.1011dup (p.Pro338fs)

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.1011dup (p.Pro338fs)

HGVS:

NC_000016.10:g.23635535dup
NG_007406.1:g.10823dup
NM_001407296.1:c.951dup
NM_001407297.1:c.1011dup
NM_001407298.1:c.1011dup
NM_001407299.1:c.1011dup
NM_001407300.1:c.1011dup
NM_001407301.1:c.1011dup
NM_001407302.1:c.1011dup
NM_001407304.1:c.126dup
NM_001407305.1:c.126dup
NM_001407306.1:c.126dup
NM_001407307.1:c.126dup
NM_001407308.1:c.126dup
NM_001407309.1:c.126dup
NM_001407310.1:c.126dup
NM_001407311.1:c.126dup
NM_001407312.1:c.-104-5066dup
NM_001407313.1:c.-104-5066dup
NM_001407314.1:c.48+5575dup
NM_024675.4:c.1011dupMANE SELECT
NP_001394225.1:p.Pro318fs
NP_001394226.1:p.Pro338fs
NP_001394227.1:p.Pro338fs
NP_001394228.1:p.Pro338fs
NP_001394229.1:p.Pro338fs
NP_001394230.1:p.Pro338fs
NP_001394231.1:p.Pro338fs
NP_001394233.1:p.Pro43fs
NP_001394234.1:p.Pro43fs
NP_001394235.1:p.Pro43fs
NP_001394236.1:p.Pro43fs
NP_001394237.1:p.Pro43fs
NP_001394238.1:p.Pro43fs
NP_001394239.1:p.Pro43fs
NP_001394240.1:p.Pro43fs
NP_078951.2:p.Pro338Thrfs
NP_078951.2:p.Pro338fs
LRG_308t1:c.1011dup
LRG_308:g.10823dup
LRG_308p1:p.Pro338Thrfs
NC_000016.9:g.23646856dup
NM_024675.3:c.1011dup

Protein change:

P318fs

Molecular consequence:

NM_001407296.1:c.951dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407297.1:c.1011dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407298.1:c.1011dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407299.1:c.1011dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407300.1:c.1011dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407301.1:c.1011dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407302.1:c.1011dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407304.1:c.126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407305.1:c.126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407306.1:c.126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407307.1:c.126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407308.1:c.126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407309.1:c.126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407310.1:c.126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407311.1:c.126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024675.4:c.1011dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407312.1:c.-104-5066dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407313.1:c.-104-5066dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407314.1:c.48+5575dup - intron variant - [Sequence Ontology: SO:0001627]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004101281	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSLVariantClassificationCriteria RUGD 01 April 2020)	Likely pathogenic (Jul 21, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004101281

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)

Likely pathogenic
(Jul 21, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV004101281.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The PALB2 c.1011dup (p.Pro338ThrfsTer4) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1011dup (p.Pro338ThrfsTer4) variant is classified as likely pathogenic for PALB2-related cancer susceptibility.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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