NM_024675.4(PALB2):c.885_886insG (p.Met296fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 21, 2019
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:: RCV001018411.4

Allele description [Variation Report for NM_024675.4(PALB2):c.885_886insG (p.Met296fs)]

NM_024675.4(PALB2):c.885_886insG (p.Met296fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.885_886insG (p.Met296fs)

HGVS:

NC_000016.10:g.23635660_23635661insC
NG_007406.1:g.10697_10698insG
NM_024675.4:c.885_886insGMANE SELECT
NP_078951.2:p.Met296fs
LRG_308t1:c.885_886insG
LRG_308:g.10697_10698insG
NC_000016.9:g.23646981_23646982insC
NM_024675.3:c.885_886insG

Protein change:

M296fs

Links:

dbSNP: rs1597097936

NCBI 1000 Genomes Browser:

rs1597097936

Molecular consequence:

NM_024675.4:c.885_886insG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

heterogeneous nuclear ribonucleoprotein K homolog isoform X1 [Drosophila ananass...
heterogeneous nuclear ribonucleoprotein K homolog isoform X1 [Drosophila ananassae]
gi|194753778|ref|XP_001959187.1|

Protein

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
SCV001179647	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 21, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001179647

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 21, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001179647.4

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

Description

The c.885_886insG pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from an insertion of one nucleotide at position 885, causing a translational frameshift with a predicted alternate stop codon (p.M296Dfs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine