NM_024675.4(PALB2):c.3026del (p.Pro1009fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 26, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003155915.1

Allele description [Variation Report for NM_024675.4(PALB2):c.3026del (p.Pro1009fs)]

NM_024675.4(PALB2):c.3026del (p.Pro1009fs)

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.3026del (p.Pro1009fs)

HGVS:

NC_000016.10:g.23621453del
NG_007406.1:g.24909del
NM_024675.4:c.3026delMANE SELECT
NP_078951.2:p.Pro1009fs
NP_078951.2:p.Pro1009fs
LRG_308t1:c.3026del
LRG_308:g.24909del
LRG_308p1:p.Pro1009fs
NC_000016.9:g.23632770del
NC_000016.9:g.23632774del
NM_024675.3:c.3026del
NM_024675.3:c.3026delC
p.P1009LfsX6

Protein change:

P1009fs

Links:

dbSNP: rs180177131

NCBI 1000 Genomes Browser:

rs180177131

Molecular consequence:

NM_024675.4:c.3026del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002589001	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Aug 26, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002589001

BRCAlab, Lund University

no assertion criteria provided

Pathogenic
(Aug 26, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	1	not provided	not provided	not provided	clinical testing

Details of each submission

From BRCAlab, Lund University, SCV002589001.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	1	not provided

Last Updated: Sep 8, 2024

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