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NM_024675.4(PALB2):c.2183del (p.Phe728fs) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 12, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003454333.1

Allele description [Variation Report for NM_024675.4(PALB2):c.2183del (p.Phe728fs)]

NM_024675.4(PALB2):c.2183del (p.Phe728fs)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
HGVS:
  • NC_000016.10:g.23629973del
  • NG_007406.1:g.16387del
  • NM_001407296.1:c.2121delT
  • NM_001407297.1:c.2181delT
  • NM_001407298.1:c.2181delT
  • NM_001407299.1:c.2181delT
  • NM_001407300.1:c.2181delT
  • NM_001407301.1:c.2181delT
  • NM_001407302.1:c.2181delT
  • NM_001407304.1:c.1296delT
  • NM_001407305.1:c.1296delT
  • NM_001407306.1:c.1296delT
  • NM_001407307.1:c.1296delT
  • NM_001407308.1:c.1296delT
  • NM_001407309.1:c.1296delT
  • NM_001407310.1:c.1296delT
  • NM_001407311.1:c.1296delT
  • NM_001407312.1:c.393delT
  • NM_001407313.1:c.393delT
  • NM_024675.4:c.2183delMANE SELECT
  • NP_001394225.1:p.Phe708Serfs
  • NP_001394226.1:p.Phe728Serfs
  • NP_001394227.1:p.Phe728Serfs
  • NP_001394228.1:p.Phe728Serfs
  • NP_001394229.1:p.Phe728Serfs
  • NP_001394230.1:p.Phe728Serfs
  • NP_001394231.1:p.Phe728Serfs
  • NP_001394233.1:p.Phe433Serfs
  • NP_001394234.1:p.Phe433Serfs
  • NP_001394235.1:p.Phe433Serfs
  • NP_001394236.1:p.Phe433Serfs
  • NP_001394237.1:p.Phe433Serfs
  • NP_001394238.1:p.Phe433Serfs
  • NP_001394239.1:p.Phe433Serfs
  • NP_001394240.1:p.Phe433Serfs
  • NP_001394241.1:p.Phe132Serfs
  • NP_001394242.1:p.Phe132Serfs
  • NP_078951.2:p.Phe728Serfs
  • NP_078951.2:p.Phe728fs
  • LRG_308t1:c.2181del
  • LRG_308:g.16387del
  • LRG_308p1:p.Phe728Serfs
  • NC_000016.9:g.23641294del
  • NM_024675.3:c.2181delT
  • NM_024675.3:c.2183delT
Protein change:
F728fs
Molecular consequence:
  • NM_001407296.1:c.2121delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407297.1:c.2181delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407298.1:c.2181delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407299.1:c.2181delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407300.1:c.2181delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407301.1:c.2181delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407302.1:c.2181delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407304.1:c.1296delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407305.1:c.1296delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407306.1:c.1296delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407307.1:c.1296delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407308.1:c.1296delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407309.1:c.1296delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407310.1:c.1296delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407311.1:c.1296delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407312.1:c.393delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407313.1:c.393delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024675.4:c.2183del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
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
SCV004186163Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Sep 12, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004186163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024