NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 5, 2021
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:: RCV001800680.3

Allele description [Variation Report for NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)]

NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)

Gene:

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.1671_1674del (p.Ile558fs)

HGVS:

NC_000016.10:g.23634873ATAA[1]
NC_000016.9:g.23646193_23646196del
NG_007406.1:g.11479TATT[1]
NM_024675.4:c.1671_1674delMANE SELECT
NP_078951.2:p.Ile558fs
LRG_308t1:c.1671_1674del
LRG_308:g.11479TATT[1]
NC_000016.9:g.23646193_23646196delAATA
NC_000016.9:g.23646194ATAA[1]
NM_024675.3:c.1671_1674delTATT

Protein change:

I558fs

Links:

dbSNP: rs1060502734

NCBI 1000 Genomes Browser:

rs1060502734

Molecular consequence:

NM_024675.4:c.1671_1674del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002046443	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (May 5, 2021)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29922827, 27779110, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002046443

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(May 5, 2021)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ.

JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

PubMed [citation]

PMID:: 29922827
PMCID:: PMC6092184

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Eliade M, Skrzypski J, Baurand A, Jacquot C, Bertolone G, Loustalot C, Coutant C, Guy F, Fumoleau P, Duffourd Y, Arnould L, Delignette A, Padéano MM, Lepage C, Raichon-Patru G, Boudrant A, Bône-Lépinoy MC, Villing AL, Charpin A, Peignaux K, Chevrier S, Vegran F, et al.

Oncotarget. 2017 Jan 10;8(2):1957-1971. doi: 10.18632/oncotarget.12699.

PubMed [citation]

PMID:: 27779110
PMCID:: PMC5356770

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046443.1

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

Description

This frameshift variant causes the premature termination of PALB2 protein synthesis. It has been reported in an individual with breast cancer in the published literature (PMID: 27779110 (2017)). Based on the available information, this variant is classified as pathogenic.

#	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 16, 2024

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