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NM_024675.4(PALB2):c.620del (p.Pro207fs) AND Familial cancer of breast

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Mar 30, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000576777.4

Allele description [Variation Report for NM_024675.4(PALB2):c.620del (p.Pro207fs)]

NM_024675.4(PALB2):c.620del (p.Pro207fs)

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.620del (p.Pro207fs)
HGVS:
  • NC_000016.10:g.23635927del
  • NG_007406.1:g.10432del
  • NM_024675.4:c.620delMANE SELECT
  • NP_078951.2:p.Pro207fs
  • LRG_308:g.10432del
  • NC_000016.9:g.23647248del
  • NM_024675.3:c.620delC
Protein change:
P207fs
Links:
dbSNP: rs1555461704
NCBI 1000 Genomes Browser:
rs1555461704
Molecular consequence:
  • NM_024675.4:c.620del - 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
SCV000677858Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely pathogenic
(Dec 12, 2016) 		unknownclinical testing

Citation Link,

SCV004019220Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Mar 30, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000677858.2

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

From Myriad Genetics, Inc., SCV004019220.1

#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