NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 8, 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:: RCV003450463.1

Allele description [Variation Report for NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs)]

NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs)

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.1442_1443del (p.Leu481fs)

HGVS:

NC_000016.10:g.23635103_23635104del
NG_007406.1:g.11254_11255del
NM_001407296.1:c.1382_1383del
NM_001407297.1:c.1442_1443del
NM_001407298.1:c.1442_1443del
NM_001407299.1:c.1442_1443del
NM_001407300.1:c.1442_1443del
NM_001407301.1:c.1442_1443del
NM_001407302.1:c.1442_1443del
NM_001407304.1:c.557_558del
NM_001407305.1:c.557_558del
NM_001407306.1:c.557_558del
NM_001407307.1:c.557_558del
NM_001407308.1:c.557_558del
NM_001407309.1:c.557_558del
NM_001407310.1:c.557_558del
NM_001407311.1:c.557_558del
NM_001407312.1:c.-104-4635_-104-4634del
NM_001407313.1:c.-104-4635_-104-4634del
NM_001407314.1:c.49-5829_49-5828del
NM_024675.4:c.1442_1443delMANE SELECT
NP_001394225.1:p.Leu461fs
NP_001394226.1:p.Leu481fs
NP_001394227.1:p.Leu481fs
NP_001394228.1:p.Leu481fs
NP_001394229.1:p.Leu481fs
NP_001394230.1:p.Leu481fs
NP_001394231.1:p.Leu481fs
NP_001394233.1:p.Leu186fs
NP_001394234.1:p.Leu186fs
NP_001394235.1:p.Leu186fs
NP_001394236.1:p.Leu186fs
NP_001394237.1:p.Leu186fs
NP_001394238.1:p.Leu186fs
NP_001394239.1:p.Leu186fs
NP_001394240.1:p.Leu186fs
NP_078951.2:p.Leu481Profs
NP_078951.2:p.Leu481fs
LRG_308t1:c.1442_1443del
LRG_308:g.11254_11255del
LRG_308p1:p.Leu481Profs
NC_000016.9:g.23646424_23646425del
NM_024675.3:c.1442_1443delTT

Protein change:

L186fs

Molecular consequence:

NM_001407296.1:c.1382_1383del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407297.1:c.1442_1443del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407298.1:c.1442_1443del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407299.1:c.1442_1443del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407300.1:c.1442_1443del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407301.1:c.1442_1443del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407302.1:c.1442_1443del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407304.1:c.557_558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407305.1:c.557_558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407306.1:c.557_558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407307.1:c.557_558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407308.1:c.557_558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407309.1:c.557_558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407310.1:c.557_558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407311.1:c.557_558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024675.4:c.1442_1443del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407312.1:c.-104-4635_-104-4634del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407313.1:c.-104-4635_-104-4634del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407314.1:c.49-5829_49-5828del - 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
SCV004188524	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Sep 8, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004188524

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Sep 8, 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., SCV004188524.1

#	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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