NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 22, 2023
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:: RCV000483117.6

Allele description [Variation Report for NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)]

NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)

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.1000T>G (p.Tyr334Asp)

HGVS:

NC_000016.10:g.23635546A>C
NG_007406.1:g.10812T>G
NM_024675.4:c.1000T>GMANE SELECT
NP_078951.2:p.Tyr334Asp
NP_078951.2:p.Tyr334Asp
LRG_308t1:c.1000T>G
LRG_308:g.10812T>G
LRG_308p1:p.Tyr334Asp
NC_000016.9:g.23646867A>C
NM_024675.3:c.1000T>G
p.Y334D

Protein change:

Y334D

Links:

dbSNP: rs202241382

NCBI 1000 Genomes Browser:

rs202241382

Molecular consequence:

NM_024675.4:c.1000T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

ALDH1B1 [Ornithorhynchus anatinus]
ALDH1B1 [Ornithorhynchus anatinus]
Gene ID:100090227

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000565345	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 22, 2023)	germline	clinical testing	Citation Link,
SCV001193050	Leiden Open Variation Database	no assertion criteria provided	Likely benign (May 13, 2019)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 21356067, 25356972

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000565345

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 22, 2023)

germline

clinical testing

Citation Link,

SCV001193050

Leiden Open Variation Database

no assertion criteria provided

Likely benign
(May 13, 2019)

germline

curation

PubMed (2)
[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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.

PubMed [citation]

PMID:: 21356067
PMCID:: PMC3109589

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 GeneDx, SCV000565345.3

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

Description

Observed individuals with breast or pancreatic cancer, as well as in unaffected controls (PMID: 21356067, 25356972); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21356067, 25356972)

#	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

From Leiden Open Variation Database, SCV001193050.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

Description

Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Marc Tischkowitz, Melissa DeRycke.

#	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 29, 2024

ClinVar

Relating variation to medicine