NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 28, 2015
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:: RCV000436797.1

Allele description [Variation Report for NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)]

NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)

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.1424C>A (p.Ser475Ter)

HGVS:

NC_000016.10:g.23635122G>T
NG_007406.1:g.11236C>A
NM_024675.4:c.1424C>AMANE SELECT
NP_078951.2:p.Ser475Ter
NP_078951.2:p.Ser475Ter
LRG_308t1:c.1424C>A
LRG_308:g.11236C>A
LRG_308p1:p.Ser475Ter
NC_000016.9:g.23646443G>T
NM_024675.3:c.1424C>A

Protein change:

S475*

Links:

dbSNP: rs886039479

NCBI 1000 Genomes Browser:

rs886039479

Molecular consequence:

NM_024675.4:c.1424C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000516840	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 28, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000516840

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 28, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000516840.4

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

Description

The PALB2 c.1424C>A substitution creates a nonsense variant, which changes a Serine to apremature stop codon (TCA>TAA) in exon 4, and is predicted to cause loss of normal protein function through eitherprotein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, beenreported in the literature, it is considered pathogenic.

#	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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