NM_024675.4(PALB2):c.1194G>A (p.Val398=) AND not specified

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000212786.20

Allele description [Variation Report for NM_024675.4(PALB2):c.1194G>A (p.Val398=)]

NM_024675.4(PALB2):c.1194G>A (p.Val398=)

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.1194G>A (p.Val398=)

Other names:

p.V398V:GTG>GTA

HGVS:

NC_000016.10:g.23635352C>T
NG_007406.1:g.11006G>A
NM_024675.4:c.1194G>AMANE SELECT
NP_078951.2:p.Val398=
NP_078951.2:p.Val398=
LRG_308t1:c.1194G>A
LRG_308:g.11006G>A
LRG_308p1:p.Val398=
NC_000016.9:g.23646673C>T
NM_024675.3:c.1194G>A
p.V398V
p.Val398Val

Links:

dbSNP: rs61755173

NCBI 1000 Genomes Browser:

rs61755173

Molecular consequence:

NM_024675.4:c.1194G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Mus musculus poly(rC) binding protein 4 (Pcbp4), mRNA
Mus musculus poly(rC) binding protein 4 (Pcbp4), mRNA
gi|31981201|ref|NM_021567.2|

Nucleotide
UI-E-EJ0-ail-e-16-0-UI.s1 UI-E-EJ0 Homo sapiens cDNA clone UI-E-EJ0-ail-e-16-0-U...
UI-E-EJ0-ail-e-16-0-UI.s1 UI-E-EJ0 Homo sapiens cDNA clone UI-E-EJ0-ail-e-16-0-UI 3', mRNA sequence
gi|18991014|gnl|dbEST|11262051|gb|B 18.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000170868	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Nov 1, 2013)	germline	clinical testing	Citation Link,
SCV000889569	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Mar 18, 2021)	unknown	clinical testing	PubMed (12) [See all records that cite these PMIDs] 33512806, 22052327, 17200668, 18302019, 21365267, 21618343, 23935836, 24949998, 26283626, 27573125, 29052111, 26467025
SCV001807038	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV002070064	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Oct 26, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002551681	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Investigation on the Role of PALB2 Gene in CDH1-Negative Patients With Hereditary Diffuse Gastric Cancer.

Carreño M, Pena-Couso L, Mercadillo F, Perea J, Urioste M.

Clin Transl Gastroenterol. 2020 Dec;11(12):e00280. doi: 10.14309/ctg.0000000000000280.

PubMed [citation]

PMID:: 33512806
PMCID:: PMC7721210

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.

Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, et al.

Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4.

PubMed [citation]

PMID:: 22052327

See all PubMed Citations (13)

Details of each submission

From GeneDx, SCV000170868.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889569.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

#	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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807038.1

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

#	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 Genetic Services Laboratory, University of Chicago, SCV002070064.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002551681.4

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

#	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: Oct 26, 2024

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