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NM_024675.4(PALB2):c.1424dup (p.Arg476fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 26, 2022
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:
RCV003155944.3

Allele description [Variation Report for NM_024675.4(PALB2):c.1424dup (p.Arg476fs)]

NM_024675.4(PALB2):c.1424dup (p.Arg476fs)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
HGVS:
  • NC_000016.10:g.23635122dup
  • NC_000016.9:g.23646442_23646443insG
  • NG_007406.1:g.11236dup
  • NM_024675.4:c.1424dupMANE SELECT
  • NP_078951.2:p.Arg476fs
  • LRG_308:g.11236dup
  • NC_000016.9:g.23646442_23646443insG
  • NC_000016.9:g.23646443dup
  • NC_000016.9:g.23646443dup
  • NC_000016.9:g.23646443dupG
  • NM_024675.3:c.1424dupC
  • NM_024675.4:c.1424dup
Protein change:
R476fs
Links:
dbSNP: rs1555461294
NCBI 1000 Genomes Browser:
rs1555461294
Observations:
1

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002588990BRCAlab, Lund University
no assertion criteria provided
Pathogenic
(Aug 26, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From BRCAlab, Lund University, SCV002588990.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Jun 17, 2024