NM_024675.4(PALB2):c.3077dup (p.Leu1027fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 12, 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:: RCV004366492.1

Allele description [Variation Report for NM_024675.4(PALB2):c.3077dup (p.Leu1027fs)]

NM_024675.4(PALB2):c.3077dup (p.Leu1027fs)

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.3077dup (p.Leu1027fs)

HGVS:

NC_000016.10:g.23621398dup
NG_007406.1:g.24960dup
NM_001407296.1:c.3017dup
NM_001407297.1:c.3005dup
NM_001407298.1:c.2915dup
NM_001407299.1:c.3077dup
NM_001407300.1:c.2834+2611dup
NM_001407301.1:c.3077dup
NM_001407302.1:c.2915dup
NM_001407304.1:c.2192dup
NM_001407305.1:c.2192dup
NM_001407306.1:c.2192dup
NM_001407307.1:c.2030dup
NM_001407308.1:c.2192dup
NM_001407309.1:c.2192dup
NM_001407310.1:c.2192dup
NM_001407311.1:c.2192dup
NM_001407312.1:c.1289dup
NM_001407313.1:c.1289dup
NM_001407314.1:c.611dup
NM_024675.4:c.3077dupMANE SELECT
NP_001394225.1:p.Leu1007fs
NP_001394226.1:p.Leu1003fs
NP_001394227.1:p.Leu973fs
NP_001394228.1:p.Leu1027fs
NP_001394230.1:p.Leu1027fs
NP_001394231.1:p.Leu973fs
NP_001394233.1:p.Leu732fs
NP_001394234.1:p.Leu732fs
NP_001394235.1:p.Leu732fs
NP_001394236.1:p.Leu678fs
NP_001394237.1:p.Leu732fs
NP_001394238.1:p.Leu732fs
NP_001394239.1:p.Leu732fs
NP_001394240.1:p.Leu732fs
NP_001394241.1:p.Leu431fs
NP_001394242.1:p.Leu431fs
NP_001394243.1:p.Leu205fs
NP_078951.2:p.Leu1027Alafs
NP_078951.2:p.Leu1027fs
LRG_308t1:c.3077dup
LRG_308:g.24960dup
LRG_308p1:p.Leu1027Alafs
NC_000016.9:g.23632718_23632719insA
NC_000016.9:g.23632719dup
NM_024675.3:c.3077dup
NM_024675.3:c.3077dupT

Protein change:

L1003fs

Molecular consequence:

NM_001407296.1:c.3017dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407297.1:c.3005dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407298.1:c.2915dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407299.1:c.3077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407301.1:c.3077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407302.1:c.2915dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407304.1:c.2192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407305.1:c.2192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407306.1:c.2192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407307.1:c.2030dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407308.1:c.2192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407309.1:c.2192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407310.1:c.2192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407311.1:c.2192dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407312.1:c.1289dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407313.1:c.1289dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407314.1:c.611dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024675.4:c.3077dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407300.1:c.2834+2611dup - 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

Recent activity

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proteasome activator complex subunit 4 [Mus musculus]
proteasome activator complex subunit 4 [Mus musculus]
gi|117956381|ref|NP_598774.2|

Protein
Synthetic construct Mus musculus clone IMAGE:100064032, MGC:193403 proteasome (p...
Synthetic construct Mus musculus clone IMAGE:100064032, MGC:193403 proteasome (prosome, macropain) activator subunit 4 (Psme4) mRNA, encodes complete protein
gi|182888460|gb|BC160288.1|

Nucleotide
Mus musculus proteasome (prosome, macropain) activator subunit 4, mRNA (cDNA clo...
Mus musculus proteasome (prosome, macropain) activator subunit 4, mRNA (cDNA clone IMAGE:9055994), partial cds
gi|229597180|gb|BC141381.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005029050	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005029050

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 12, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005029050.1

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

Description

The c.3077dupT pathogenic mutation, located in coding exon 10 of the PALB2 gene, results from a duplication of T at nucleotide position 3077, causing a translational frameshift with a predicted alternate stop codon (p.L1027Afs*26). 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.

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

Last Updated: Sep 29, 2024

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