NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 16, 2014
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:: RCV000497296.1

Allele description [Variation Report for NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)]

NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)

HGVS:

NC_000016.10:g.23629760_23629766del
NG_007406.1:g.16594_16600del
NM_024675.4:c.2390_2396delMANE SELECT
NP_078951.2:p.Gln797fs
LRG_308:g.16594_16600del
NC_000016.9:g.23641081_23641087del
NM_024675.3:c.2390_2396delAACCTAC
p.Gln797ProfsX52
p.Q797PfsX52

Protein change:

Q797fs

Links:

dbSNP: rs587780211

NCBI 1000 Genomes Browser:

rs587780211

Molecular consequence:

NM_024675.4:c.2390_2396del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000149994	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 16, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000149994

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 16, 2014)

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, SCV000149994.5

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

Description

This pathogenic variant is denoted PALB2 c.2390_2396delAACCTAC at the cDNA level and p.Gln797ProfsX52 (Q797PfsX52) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GGAC[AACCTAC]CTGT. The deletion of 7 nucleotides causes a frameshift, which changes a Glutamine to a Proline at codon 797, and creates a premature stop codon at position 52 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, 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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