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NM_024675.3(PALB2):c.522_523del (p.Arg175fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 13, 2015)
Last evaluated:
Jun 1, 2015
Accession:
VCV000225847.1
Variation ID:
225847
Description:
2bp deletion
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NM_024675.3(PALB2):c.522_523del (p.Arg175fs)

Allele ID
227677
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
16p12.2
Genomic location
16: 23636023-23636024 (GRCh38) GRCh38 UCSC
16: 23647344-23647345 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.23647346_23647347del
NC_000016.10:g.23636025_23636026del
NM_024675.3:c.522_523del NP_078951.2:p.Arg175fs frameshift
... more HGVS
Protein change
R175fs
Other names
-
Canonical SPDI
NC_000016.10:23636022:TTTT:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10576118
dbSNP: rs875989789
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 1, 2015 RCV000211064.1
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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
3869 3902

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: SCV000267960.1
Submitted: (Aug 13, 2015)
Evidence details
Publications
PubMed (1)

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 rs875989789...

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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 Apr 12, 2021