NM_024675.4(PALB2):c.2477del (p.Asn826fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 14, 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:: RCV003450522.1

Allele description [Variation Report for NM_024675.4(PALB2):c.2477del (p.Asn826fs)]

NM_024675.4(PALB2):c.2477del (p.Asn826fs)

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.2477del (p.Asn826fs)

HGVS:

NC_000016.10:g.23629679del
NG_007406.1:g.16681del
NM_001407296.1:c.2417del
NM_001407297.1:c.2477del
NM_001407298.1:c.2477del
NM_001407299.1:c.2477del
NM_001407300.1:c.2477del
NM_001407301.1:c.2477del
NM_001407302.1:c.2477del
NM_001407304.1:c.1592del
NM_001407305.1:c.1592del
NM_001407306.1:c.1592del
NM_001407307.1:c.1592del
NM_001407308.1:c.1592del
NM_001407309.1:c.1592del
NM_001407310.1:c.1592del
NM_001407311.1:c.1592del
NM_001407312.1:c.689del
NM_001407313.1:c.689del
NM_001407314.1:c.49-402del
NM_024675.4:c.2477delMANE SELECT
NP_001394225.1:p.Asn806fs
NP_001394226.1:p.Asn826fs
NP_001394227.1:p.Asn826fs
NP_001394228.1:p.Asn826fs
NP_001394229.1:p.Asn826fs
NP_001394230.1:p.Asn826fs
NP_001394231.1:p.Asn826fs
NP_001394233.1:p.Asn531fs
NP_001394234.1:p.Asn531fs
NP_001394235.1:p.Asn531fs
NP_001394236.1:p.Asn531fs
NP_001394237.1:p.Asn531fs
NP_001394238.1:p.Asn531fs
NP_001394239.1:p.Asn531fs
NP_001394240.1:p.Asn531fs
NP_001394241.1:p.Asn230fs
NP_001394242.1:p.Asn230fs
NP_078951.2:p.Asn826Thrfs
NP_078951.2:p.Asn826fs
LRG_308t1:c.2475del
LRG_308:g.16681del
LRG_308p1:p.Asn826Thrfs
NC_000016.9:g.23641000del
NM_024675.3:c.2475delA

Protein change:

N230fs

Molecular consequence:

NM_001407296.1:c.2417del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407297.1:c.2477del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407298.1:c.2477del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407299.1:c.2477del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407300.1:c.2477del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407301.1:c.2477del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407302.1:c.2477del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407304.1:c.1592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407305.1:c.1592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407306.1:c.1592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407307.1:c.1592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407308.1:c.1592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407309.1:c.1592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407310.1:c.1592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407311.1:c.1592del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407312.1:c.689del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407313.1:c.689del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024675.4:c.2477del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407314.1:c.49-402del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004189583	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Nov 14, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004189583

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Nov 14, 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 Myriad Genetics, Inc., SCV004189583.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#	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: Sep 8, 2024

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