Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_024675.4(PALB2):c.577dup (p.Thr193fs)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 13, 2015)
Last evaluated:
Jun 1, 2015
Accession:
VCV000225848.1
Variation ID:
225848
Description:
1bp duplication
Help

NM_024675.4(PALB2):c.577dup (p.Thr193fs)

Allele ID
227676
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
16p12.2
Genomic location
16: 23635968-23635969 (GRCh38) GRCh38 UCSC
16: 23647289-23647290 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_024675.3:c.577dupA
NC_000016.10:g.23635970dup
NC_000016.9:g.23647291dup
... more HGVS
Protein change
T193fs
Other names
-
Canonical SPDI
NC_000016.10:23635968:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10576117
dbSNP: rs875989790
VarSome
Help

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 RCV000211071.1
Help
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

Help
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: SCV000267961.1
Submitted: (Aug 13, 2015)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
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 rs875989790...

Help
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 Nov 27, 2021