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NM_024675.4(PALB2):c.1268_1270del (p.Val423del) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 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:
RCV003608348.2

Allele description [Variation Report for NM_024675.4(PALB2):c.1268_1270del (p.Val423del)]

NM_024675.4(PALB2):c.1268_1270del (p.Val423del)

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.1268_1270del (p.Val423del)
HGVS:
  • NC_000016.10:g.23635278_23635280del
  • NG_007406.1:g.11080_11082del
  • NM_001407296.1:c.1208_1210del
  • NM_001407297.1:c.1268_1270del
  • NM_001407298.1:c.1268_1270del
  • NM_001407299.1:c.1268_1270del
  • NM_001407300.1:c.1268_1270del
  • NM_001407301.1:c.1268_1270del
  • NM_001407302.1:c.1268_1270del
  • NM_001407304.1:c.383_385del
  • NM_001407305.1:c.383_385del
  • NM_001407306.1:c.383_385del
  • NM_001407307.1:c.383_385del
  • NM_001407308.1:c.383_385del
  • NM_001407309.1:c.383_385del
  • NM_001407310.1:c.383_385del
  • NM_001407311.1:c.383_385del
  • NM_001407312.1:c.-104-4809_-104-4807del
  • NM_001407313.1:c.-104-4809_-104-4807del
  • NM_001407314.1:c.48+5832_48+5834del
  • NM_024675.4:c.1268_1270delMANE SELECT
  • NP_001394225.1:p.Val403del
  • NP_001394226.1:p.Val423del
  • NP_001394227.1:p.Val423del
  • NP_001394228.1:p.Val423del
  • NP_001394229.1:p.Val423del
  • NP_001394230.1:p.Val423del
  • NP_001394231.1:p.Val423del
  • NP_001394233.1:p.Val128del
  • NP_001394234.1:p.Val128del
  • NP_001394235.1:p.Val128del
  • NP_001394236.1:p.Val128del
  • NP_001394237.1:p.Val128del
  • NP_001394238.1:p.Val128del
  • NP_001394239.1:p.Val128del
  • NP_001394240.1:p.Val128del
  • NP_078951.2:p.Val423del
  • NP_078951.2:p.Val423del
  • LRG_308t1:c.1266_1268del
  • LRG_308:g.11080_11082del
  • LRG_308p1:p.Val423del
  • NC_000016.9:g.23646597_23646599del
  • NC_000016.9:g.23646599_23646601del
  • NM_024675.3:c.1266_1268delAGT
Protein change:
V128del
Molecular consequence:
  • NM_001407296.1:c.1208_1210del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407297.1:c.1268_1270del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407298.1:c.1268_1270del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407299.1:c.1268_1270del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407300.1:c.1268_1270del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407301.1:c.1268_1270del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407302.1:c.1268_1270del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407304.1:c.383_385del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407305.1:c.383_385del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407306.1:c.383_385del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407307.1:c.383_385del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407308.1:c.383_385del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407309.1:c.383_385del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407310.1:c.383_385del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407311.1:c.383_385del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_024675.4:c.1268_1270del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407312.1:c.-104-4809_-104-4807del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407313.1:c.-104-4809_-104-4807del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407314.1:c.48+5832_48+5834del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

Recent activity

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  • SRX7866613 (1)
    SRA
  • probable serine carboxypeptidase CPVL isoform b precursor [Homo sapiens]
    probable serine carboxypeptidase CPVL isoform b precursor [Homo sapiens]
    gi|1697699209|ref|NP_001358190.1|
    Protein
  • Axon Guidance
    Axon Guidance
    The mechanism by which a neuronal process outgrows toward a target led by the GROWTH CONE. Local guidance cues are provided by cell surface proteins that act on the growing ax...<br/>Year introduced: 2017
    MeSH
  • Schaffer Collaterals
    Schaffer Collaterals
    The main axon connection from the CA3 PYRAMIDAL CELL AREA to the CA1 PYRAMIDAL CELL AREA in the HIPPOCAMPUS. Schaffer collaterals are important in memory, learning and activit...<br/>Year introduced: 2023(2015)
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004460484Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 19, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004460484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant, c.1268_1270del, results in the deletion of 1 amino acid(s) of the PALB2 protein (p.Val423del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PALB2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Sep 29, 2024