NM_024675.4(PALB2):c.593del (p.His198fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 6, 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:: RCV003452356.1

Allele description [Variation Report for NM_024675.4(PALB2):c.593del (p.His198fs)]

NM_024675.4(PALB2):c.593del (p.His198fs)

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.593del (p.His198fs)

HGVS:

NC_000016.10:g.23635953del
NG_007406.1:g.10405del
NM_001407296.1:c.533del
NM_001407297.1:c.593del
NM_001407298.1:c.593del
NM_001407299.1:c.593del
NM_001407300.1:c.593del
NM_001407301.1:c.593del
NM_001407302.1:c.593del
NM_001407304.1:c.-293del
NM_001407305.1:c.-293del
NM_001407306.1:c.-293del
NM_001407307.1:c.-293del
NM_001407308.1:c.-293del
NM_001407309.1:c.-293del
NM_001407310.1:c.-293del
NM_001407311.1:c.-293del
NM_001407312.1:c.-105+5157del
NM_001407313.1:c.-105+5157del
NM_001407314.1:c.48+5157del
NM_024675.4:c.593delMANE SELECT
NP_001394225.1:p.His178fs
NP_001394226.1:p.His198fs
NP_001394227.1:p.His198fs
NP_001394228.1:p.His198fs
NP_001394229.1:p.His198fs
NP_001394230.1:p.His198fs
NP_001394231.1:p.His198fs
NP_078951.2:p.His198Profs
NP_078951.2:p.His198fs
LRG_308t1:c.593del
LRG_308:g.10405del
LRG_308p1:p.His198Profs
NC_000016.9:g.23647274del
NM_024675.3:c.593delA

Protein change:

H178fs

Molecular consequence:

NM_001407304.1:c.-293del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407305.1:c.-293del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407306.1:c.-293del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407307.1:c.-293del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407308.1:c.-293del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407309.1:c.-293del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407310.1:c.-293del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407311.1:c.-293del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407296.1:c.533del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407297.1:c.593del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407298.1:c.593del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407299.1:c.593del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407300.1:c.593del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407301.1:c.593del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407302.1:c.593del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024675.4:c.593del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407312.1:c.-105+5157del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407313.1:c.-105+5157del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407314.1:c.48+5157del - 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

Recent activity

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PREDICTED: Ursus americanus sarcoglycan delta (SGCD), transcript variant X2, mRNA
gi|2176657282|ref|XM_045791977.1|

Nucleotide
Salmonella enterica subsp. enterica serovar Senftenberg strain Sf1 SpeC (speC) g...
Salmonella enterica subsp. enterica serovar Senftenberg strain Sf1 SpeC (speC) gene, partial cds
gi|82706403|gb|DQ285520.1|

Nucleotide
Org.one project - Puerto Rican Parrot
Org.one project - Puerto Rican Parrot
Org.one project - Puerto Rican Parrot

BioProject
Salmonella enterica subsp. enterica serovar Infantis strain In1 SpeC (speC) gene...
Salmonella enterica subsp. enterica serovar Infantis strain In1 SpeC (speC) gene, partial cds
gi|82706409|gb|DQ285523.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004187510	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Sep 6, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004187510

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Sep 6, 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., SCV004187510.1

#	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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