NM_024675.4(PALB2):c.2797del (p.Cys933fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 27, 2021
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:: RCV002441475.2

Allele description [Variation Report for NM_024675.4(PALB2):c.2797del (p.Cys933fs)]

NM_024675.4(PALB2):c.2797del (p.Cys933fs)

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.2797del (p.Cys933fs)

HGVS:

NC_000016.10:g.23624046del
NG_007406.1:g.22312del
NM_001407296.1:c.2737delT
NM_001407297.1:c.2725delT
NM_001407298.1:c.2635delT
NM_001407299.1:c.2797delT
NM_001407300.1:c.2797delT
NM_001407301.1:c.2797delT
NM_001407302.1:c.2635delT
NM_001407304.1:c.1912delT
NM_001407305.1:c.1912delT
NM_001407306.1:c.1912delT
NM_001407307.1:c.1750delT
NM_001407308.1:c.1912delT
NM_001407309.1:c.1912delT
NM_001407310.1:c.1912delT
NM_001407311.1:c.1912delT
NM_001407312.1:c.1009delT
NM_001407313.1:c.1009delT
NM_001407314.1:c.331delT
NM_024675.4:c.2797delMANE SELECT
NP_001394225.1:p.Cys913Valfs
NP_001394226.1:p.Cys909Valfs
NP_001394227.1:p.Cys879Valfs
NP_001394228.1:p.Cys933Valfs
NP_001394229.1:p.Cys933Valfs
NP_001394230.1:p.Cys933Valfs
NP_001394231.1:p.Cys879Valfs
NP_001394233.1:p.Cys638Valfs
NP_001394234.1:p.Cys638Valfs
NP_001394235.1:p.Cys638Valfs
NP_001394236.1:p.Cys584Valfs
NP_001394237.1:p.Cys638Valfs
NP_001394238.1:p.Cys638Valfs
NP_001394239.1:p.Cys638Valfs
NP_001394240.1:p.Cys638Valfs
NP_001394241.1:p.Cys337Valfs
NP_001394242.1:p.Cys337Valfs
NP_001394243.1:p.Cys111Valfs
NP_078951.2:p.Cys933Valfs
NP_078951.2:p.Cys933fs
LRG_308t1:c.2797del
LRG_308:g.22312del
LRG_308p1:p.Cys933Valfs
NC_000016.9:g.23635367del
NM_024675.3:c.2797delT

Protein change:

C933fs

Molecular consequence:

NM_001407296.1:c.2737delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407297.1:c.2725delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407298.1:c.2635delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407299.1:c.2797delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407300.1:c.2797delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407301.1:c.2797delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407302.1:c.2635delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407304.1:c.1912delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407305.1:c.1912delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407306.1:c.1912delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407307.1:c.1750delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407308.1:c.1912delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407309.1:c.1912delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407310.1:c.1912delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407311.1:c.1912delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407312.1:c.1009delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407313.1:c.1009delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407314.1:c.331delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024675.4:c.2797del - 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

Recent activity

Clear Turn Off Turn On

Mus musculus sodium channel, voltage-gated, type III, alpha (Scn3a), transcript ...
Mus musculus sodium channel, voltage-gated, type III, alpha (Scn3a), transcript variant 4, mRNA
gi|1241781362|ref|NM_001355169.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002747368	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 27, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002747368

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 27, 2021)

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, SCV002747368.2

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

Description

The c.2797delT pathogenic mutation, located in coding exon 8 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 2797, causing a translational frameshift with a predicted alternate stop codon (p.C933Vfs*2). 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

ClinVar

Relating variation to medicine