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NM_024675.4(PALB2):c.3350+16T>G AND Familial cancer of breast

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 26, 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:
RCV001030412.8

Allele description [Variation Report for NM_024675.4(PALB2):c.3350+16T>G]

NM_024675.4(PALB2):c.3350+16T>G

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.3350+16T>G
HGVS:
  • NC_000016.10:g.23607848A>C
  • NG_007406.1:g.38510T>G
  • NM_024675.4:c.3350+16T>GMANE SELECT
  • LRG_308t1:c.3350+16T>G
  • LRG_308:g.38510T>G
  • NC_000016.9:g.23619169A>C
  • NM_024675.3:c.3350+16T>G
Links:
dbSNP: rs515726115
NCBI 1000 Genomes Browser:
rs515726115
Molecular consequence:
  • NM_024675.4:c.3350+16T>G - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001193399Leiden Open Variation Database
no assertion criteria provided
Likely benign
(May 13, 2019)
germlinecuration

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

SCV002432258Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Feb 26, 2023)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Novel germline PALB2 truncating mutations in African American breast cancer patients.

Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI.

Cancer. 2012 Mar 1;118(5):1362-70. doi: 10.1002/cncr.26388. Epub 2011 Aug 26.

PubMed [citation]
PMID:
21932393
PMCID:
PMC3244533

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 Leiden Open Variation Database, SCV001193399.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002432258.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024