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NM_024675.4(PALB2):c.212-10del AND Familial cancer of breast

Clinical significance:Benign (Last evaluated: Dec 17, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001084305.6

Allele description [Variation Report for NM_024675.4(PALB2):c.212-10del]

NM_024675.4(PALB2):c.212-10del

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.212-10del
HGVS:
  • NC_000016.10:g.23636350del
  • NC_000016.9:g.23647671delA
  • NG_007406.1:g.10014del
  • NM_024675.4:c.212-10delMANE SELECT
  • LRG_308t1:c.212-10del
  • LRG_308:g.10014del
  • NC_000016.9:g.23647665del
  • NC_000016.9:g.23647671del
  • NC_000016.9:g.23647671delA
  • NM_024675.3:c.212-10del
  • NM_024675.3:c.212-10delT
  • NM_024675.4:c.212-10delTMANE SELECT
Links:
dbSNP: rs766487430
NCBI 1000 Genomes Browser:
rs766487430
Molecular consequence:
  • NM_024675.4:c.212-10del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000252859Invitaecriteria provided, single submitter
Benign
(Dec 17, 2021) 		germlineclinical testing

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

Summary from all submissions

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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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000252859.9

#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: Jan 21, 2023

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