NM_024675.4(PALB2):c.172_175del (p.Gln60fs) AND Breast and/or ovarian cancer

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 11, 2019
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:: RCV001270993.4

Allele description [Variation Report for NM_024675.4(PALB2):c.172_175del (p.Gln60fs)]

NM_024675.4(PALB2):c.172_175del (p.Gln60fs)

Genes:

DCTN5:dynactin subunit 5 [Gene - OMIM - HGNC]
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.172_175del (p.Gln60fs)

HGVS:

NC_000016.10:g.23637886ACAA[1]
NC_000016.9:g.23649207_23649210del
NG_007406.1:g.8465TTGT[1]
NM_024675.4:c.172_175delMANE SELECT
NP_078951.2:p.Gln60fs
LRG_308:g.8465TTGT[1]
NC_000016.9:g.23649207ACAA[1]
NC_000016.9:g.23649207_23649210del
NC_000016.9:g.23649211_23649214del
NM_024675.3:c.172_175delTTGT
NM_024675.4:c.172_175del
NM_024675.4:c.172_175delTTGTMANE SELECT
p.Gln60Argfs*7
p.Gln60ArgfsX7
p.Q60Rfs*7
p.Q60RfsX7

Protein change:

Q60fs

Links:

OMIM: 610355.0007; dbSNP: rs180177143

NCBI 1000 Genomes Browser:

rs180177143

Molecular consequence:

NM_024675.4:c.172_175del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Observations:

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001451805	CZECANCA consortium	no assertion criteria provided	Pathogenic (Jun 11, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001451805

CZECANCA consortium

no assertion criteria provided

Pathogenic
(Jun 11, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Slavic	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]

PMID:: 32295079
PMCID:: PMC7226062

Details of each submission

From CZECANCA consortium, SCV001451805.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Slavic	3	not provided	not provided	clinical testing	PubMed (1)

#	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		3	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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