NM_024675.3(PALB2):c.3201+1G>C AND Familial cancer of breast

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 7, 2016
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:: RCV000230297.1

Allele description

NM_024675.3(PALB2):c.3201+1G>C

Gene:

PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.3(PALB2):c.3201+1G>C

HGVS:

NC_000016.10:g.23614003C>G
NG_007406.1:g.32355G>C
NM_024675.3:c.3201+1G>C
LRG_308t1:c.3201+1G>C
LRG_308:g.32355G>C
NC_000016.9:g.23625324C>G

Links:

dbSNP: rs587776423

NCBI 1000 Genomes Browser:

rs587776423

Molecular consequence:

NM_024675.3:c.3201+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: CHEK2-Related Breast Cancer
Identifiers:: MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000290867	Invitae,	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Mar 7, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000290867

Invitae,

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Mar 7, 2016)

germline

clinical testing

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

Details of each submission

From Invitae,, SCV000290867.1

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

Description

This sequence change affects a donor splice site in intron 11 of the PALB2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in an individual with breast cancer (PMID: 22241545) and a family included in a study to estimate breast cancer risk (PMID: 25099575). This variant is referred to as c.3202+1G>C in the literature (PMID: 22241545). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in PALB2 are known to be pathogenic (PMID: 25099575, 17200668). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

#	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: Dec 19, 2017

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