NM_024675.4(PALB2):c.404dup (p.Pro135_Ser136insTer) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 28, 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:: RCV003182751.2

Allele description [Variation Report for NM_024675.4(PALB2):c.404dup (p.Pro135_Ser136insTer)]

NM_024675.4(PALB2):c.404dup (p.Pro135_Ser136insTer)

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.404dup (p.Pro135_Ser136insTer)

HGVS:

NC_000016.10:g.23636144dup
NG_007406.1:g.10216dup
NM_001407296.1:c.344dup
NM_001407297.1:c.404dup
NM_001407298.1:c.404dup
NM_001407299.1:c.404dup
NM_001407300.1:c.404dup
NM_001407301.1:c.404dup
NM_001407302.1:c.404dup
NM_001407304.1:c.-482dup
NM_001407305.1:c.-482dup
NM_001407306.1:c.-482dup
NM_001407307.1:c.-482dup
NM_001407308.1:c.-482dup
NM_001407309.1:c.-482dup
NM_001407310.1:c.-482dup
NM_001407311.1:c.-482dup
NM_001407312.1:c.-105+4968dup
NM_001407313.1:c.-105+4968dup
NM_001407314.1:c.48+4968dup
NM_024675.4:c.404dupMANE SELECT
NP_001394225.1:p.Pro115_Ser116insTer
NP_001394226.1:p.Pro135_Ser136insTer
NP_001394227.1:p.Pro135_Ser136insTer
NP_001394228.1:p.Pro135_Ser136insTer
NP_001394229.1:p.Pro135_Ser136insTer
NP_001394230.1:p.Pro135_Ser136insTer
NP_001394231.1:p.Pro135_Ser136insTer
NP_078951.2:p.Pro135_Ser136insTer
NP_078951.2:p.Ser136Terfs
LRG_308t1:c.402dup
LRG_308:g.10216dup
LRG_308p1:p.Ser136Terfs
NC_000016.9:g.23647465dup
NM_024675.3:c.402dup
NM_024675.3:c.404dupC

Molecular consequence:

NM_001407304.1:c.-482dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407305.1:c.-482dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407306.1:c.-482dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407307.1:c.-482dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407308.1:c.-482dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407309.1:c.-482dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407310.1:c.-482dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407311.1:c.-482dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407296.1:c.344dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407297.1:c.404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407298.1:c.404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407299.1:c.404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407300.1:c.404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407301.1:c.404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407302.1:c.404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024675.4:c.404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407312.1:c.-105+4968dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407313.1:c.-105+4968dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407314.1:c.48+4968dup - 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
SCV003867683	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003867683

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 28, 2022)

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, SCV003867683.2

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

Description

The c.404dupC pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a duplication of C at nucleotide position 404, causing a translational frameshift with a predicted alternate stop codon (p.S136*). 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.

#	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: May 1, 2024

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