NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 13, 2022
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:: RCV000709384.9

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)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001173143	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 13, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 17200668, 21365267, 25099575, 27099641, 27469594, 28858227 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001173143

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 13, 2022)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK)., Easton DF, Stratton MR.

Nat Genet. 2007 Feb;39(2):165-7. Epub 2006 Dec 31.

PubMed [citation]

PMID:: 17200668
PMCID:: PMC2871593

PALB2 mutations in familial breast and pancreatic cancer.

Hofstatter EW, Domchek SM, Miron A, Garber J, Wang M, Componeschi K, Boghossian L, Miron PL, Nathanson KL, Tung N.

Fam Cancer. 2011 Jun;10(2):225-31. doi: 10.1007/s10689-011-9426-1.

PubMed [citation]

PMID:: 21365267
PMCID:: PMC3836668

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV001173143.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

The c.1671_1674delTATT pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a deletion of 4 nucleotides at nucleotide positions 1671 to 1674, causing a translational frameshift with a predicted alternate stop codon (p.I558Kfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 16, 2024

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