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NM_024675.4(PALB2):c.212-10del AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Dec 20, 2022)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000580912.5

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:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000685919Color Diagnostics, LLC DBA Color Healthcriteria provided, single submitter
Likely benign
(Apr 4, 2016)
germlineclinical testing

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

SCV002530671Sema4,Sema4criteria provided, single submitter
Likely benign
(Nov 27, 2021)
germlinecuration

Citation Link,

SCV002819251Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.criteria provided, single submitter
Likely benign
(Dec 20, 2022)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000685919.2

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

From Sema4,Sema4, SCV002530671.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV002819251.1

#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