NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser) AND Pancreatic cancer, susceptibility to, 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 13, 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:: RCV001030367.2

Allele description [Variation Report for NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)]

NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)

HGVS:

NC_000016.10:g.23621450G>A
NG_007406.1:g.24908C>T
NM_024675.4:c.3025C>TMANE SELECT
NP_078951.2:p.Pro1009Ser
NP_078951.2:p.Pro1009Ser
LRG_308t1:c.3025C>T
LRG_308:g.24908C>T
LRG_308p1:p.Pro1009Ser
NC_000016.9:g.23632771G>A
NM_024675.3:c.3025C>T

Protein change:

P1009S

Links:

dbSNP: rs764669864

NCBI 1000 Genomes Browser:

rs764669864

Molecular consequence:

NM_024675.4:c.3025C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pancreatic cancer, susceptibility to, 3
Synonyms:: Pancreatic cancer 3
Identifiers:: MONDO: MONDO:0013236; MedGen: C3150547; Orphanet: 1333; OMIM: 613348

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H.sapiens FGF gene, exon 3
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001193328	Leiden Open Variation Database	no assertion criteria provided	Uncertain significance (May 13, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001193328

Leiden Open Variation Database

no assertion criteria provided

Uncertain significance
(May 13, 2019)

germline

curation

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Zhen DB, Rabe KG, Gallinger S, Syngal S, Schwartz AG, Goggins MG, Hruban RH, Cote ML, McWilliams RR, Roberts NJ, Cannon-Albright LA, Li D, Moyes K, Wenstrup RJ, Hartman AR, Seminara D, Klein AP, Petersen GM.

Genet Med. 2015 Jul;17(7):569-77. doi: 10.1038/gim.2014.153. Epub 2014 Nov 20.

PubMed [citation]

PMID:: 25356972
PMCID:: PMC4439391

Details of each submission

From Leiden Open Variation Database, SCV001193328.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

#	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	not provided	not provided

Last Updated: Sep 8, 2024

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