NM_024675.4(PALB2):c.1453del (p.Thr485fs) 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:: RCV003452328.1

Allele description [Variation Report for NM_024675.4(PALB2):c.1453del (p.Thr485fs)]

NM_024675.4(PALB2):c.1453del (p.Thr485fs)

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.1453del (p.Thr485fs)

HGVS:

NC_000016.10:g.23635094del
NG_007406.1:g.11265del
NM_001407296.1:c.1393del
NM_001407297.1:c.1453del
NM_001407298.1:c.1453del
NM_001407299.1:c.1453del
NM_001407300.1:c.1453del
NM_001407301.1:c.1453del
NM_001407302.1:c.1453del
NM_001407304.1:c.568del
NM_001407305.1:c.568del
NM_001407306.1:c.568del
NM_001407307.1:c.568del
NM_001407308.1:c.568del
NM_001407309.1:c.568del
NM_001407310.1:c.568del
NM_001407311.1:c.568del
NM_001407312.1:c.-104-4624del
NM_001407313.1:c.-104-4624del
NM_001407314.1:c.49-5818del
NM_024675.4:c.1453delMANE SELECT
NP_001394225.1:p.Thr465fs
NP_001394226.1:p.Thr485fs
NP_001394227.1:p.Thr485fs
NP_001394228.1:p.Thr485fs
NP_001394229.1:p.Thr485fs
NP_001394230.1:p.Thr485fs
NP_001394231.1:p.Thr485fs
NP_001394233.1:p.Thr190fs
NP_001394234.1:p.Thr190fs
NP_001394235.1:p.Thr190fs
NP_001394236.1:p.Thr190fs
NP_001394237.1:p.Thr190fs
NP_001394238.1:p.Thr190fs
NP_001394239.1:p.Thr190fs
NP_001394240.1:p.Thr190fs
NP_078951.2:p.Thr485Leufs
NP_078951.2:p.Thr485fs
LRG_308t1:c.1452del
LRG_308:g.11265del
LRG_308p1:p.Thr485Leufs
NC_000016.9:g.23646415del
NM_024675.3:c.1452delA

Protein change:

T190fs

Molecular consequence:

NM_001407296.1:c.1393del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407297.1:c.1453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407298.1:c.1453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407299.1:c.1453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407300.1:c.1453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407301.1:c.1453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407302.1:c.1453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407304.1:c.568del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407305.1:c.568del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407306.1:c.568del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407307.1:c.568del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407308.1:c.568del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407309.1:c.568del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407310.1:c.568del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407311.1:c.568del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024675.4:c.1453del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407312.1:c.-104-4624del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407313.1:c.-104-4624del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407314.1:c.49-5818del - 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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Homo sapiens Rho GDP dissociation inhibitor alpha (ARHGDIA), transcript variant ...
Homo sapiens Rho GDP dissociation inhibitor alpha (ARHGDIA), transcript variant 3, mRNA
gi|1676317665|ref|NM_001185078.3|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004187464	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

SCV004187464

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

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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., SCV004187464.1

#	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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