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NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs) AND Familial cancer of breast

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 30, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001775205.2

Allele description [Variation Report for NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs)]

NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs)

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.3446_3447insAGTACAGC (p.Leu1150fs)
HGVS:
  • NC_000016.10:g.23603575_23603576insTGTACTGC
  • NG_007406.1:g.42784_42785insAGTACAGC
  • NM_024675.4:c.3446_3447insAGTACAGCMANE SELECT
  • NP_078951.2:p.Leu1150fs
  • LRG_308t1:c.3446_3447insAGTACAGC
  • LRG_308:g.42784_42785insAGTACAGC
  • NC_000016.9:g.23614896_23614897insTGTACTGC
  • NM_024675.3:c.3446_3447insAGTACAGC
Protein change:
L1150fs
Links:
dbSNP: rs2142253658
NCBI 1000 Genomes Browser:
rs2142253658
Molecular consequence:
  • NM_024675.4:c.3446_3447insAGTACAGC - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002011865MVZ Praenatalmedizin und Genetik Nuernberg
no assertion criteria provided
Likely pathogenic
(Jun 30, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

PALB2 regulates recombinational repair through chromatin association and oligomerization.

Sy SM, Huen MS, Zhu Y, Chen J.

J Biol Chem. 2009 Jul 3;284(27):18302-10. doi: 10.1074/jbc.M109.016717. Epub 2009 May 7.

PubMed [citation]
PMID:
19423707
PMCID:
PMC2709360

Details of each submission

From MVZ Praenatalmedizin und Genetik Nuernberg, SCV002011865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

This variant was not listed in the databases (ClinVar, LOVD). GnomAD shows no entry for this variant (very rare or private variant). This variant results in a premature stop-codon in the last exon of PALB2. Therefore we do not expect nonsense mediated decay. This out-of-frame-insertion affects the C-terminal domain of the PALB2 protein, which was suggested by Sy et al. to be crucial for correct PALB2-functioning (PMID:19423707). Taken together, we classify this variant as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023