NM_024675.3(PALB2):c.3396_3405delGACTTCTGGA (p.Thr1133Glnfs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Oct 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000217312.2

Allele description

NM_024675.3(PALB2):c.3396_3405delGACTTCTGGA (p.Thr1133Glnfs)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.3(PALB2):c.3396_3405delGACTTCTGGA (p.Thr1133Glnfs)
HGVS:
  • NC_000016.10:g.23603615_23603624delTCCAGAAGTC
  • NG_007406.1:g.42734_42743delGACTTCTGGA
  • NM_024675.3:c.3396_3405delGACTTCTGGA
  • NP_078951.2:p.Thr1133Glnfs
  • LRG_308t1:c.3396_3405delGACTTCTGGA
  • LRG_308:g.42734_42743delGACTTCTGGA
  • LRG_308p1:p.Thr1133Glnfs
  • NC_000016.9:g.23614936_23614945delTCCAGAAGTC
  • NM_024675.3:c.3396_3405del10
Links:
dbSNP: rs876660492
NCBI 1000 Genomes Browser:
rs876660492
Molecular consequence:
  • NM_024675.3:c.3396_3405delGACTTCTGGA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000277970Ambry Geneticscriteria provided, single submitter
Pathogenic
(Oct 28, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000277970.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 6, 2018