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NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 5, 2017)
Last evaluated:
Apr 16, 2017
Accession:
VCV000460972.1
Variation ID:
460972
Description:
8bp duplication
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NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)

Allele ID
465443
Variant type
Duplication
Variant length
8 bp
Cytogenetic location
16p12.2
Genomic location
16: 23622998-23622999 (GRCh38) GRCh38 UCSC
16: 23634319-23634320 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_024675.3:c.2959_2966dupCAACAAGT frameshift
LRG_308:g.23352_23359dup
NC_000016.10:g.23623000_23623007dup
... more HGVS
Protein change
E990fs
Other names
-
Canonical SPDI
NC_000016.10:23622998:ACTTGTTGA:ACTTGTTGACTTGTTGA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10576108
dbSNP: rs875989792
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 16, 2017 RCV000532289.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PALB2 - - GRCh38
GRCh37
3890 3924

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 01, 2015)
criteria provided, single submitter
Method: case-control
Familial cancer of breast
Cases recruited through familial  (more...)
Allele origin: germline
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre
Accession: SCV000267969.1
Submitted: (Aug 13, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 16, 2017)
criteria provided, single submitter
Method: clinical testing
Familial cancer of breast
Allele origin: germline
Invitae
Accession: SCV000633393.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change creates a premature translational stop signal at codon 990 (p.Glu990Asnfs*3) of the PALB2 gene. It is expected to result in an absent … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. Thompson ER Breast cancer research : BCR 2015 PMID: 26283626

Text-mined citations for rs875989792...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021