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NM_004656.4(BAP1):c.1786del (p.Ser596fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 22, 2020
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:
RCV002407022.2

Allele description [Variation Report for NM_004656.4(BAP1):c.1786del (p.Ser596fs)]

NM_004656.4(BAP1):c.1786del (p.Ser596fs)

Gene:
BAP1:BRCA1 associated deubiquitinase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p21.1
Genomic location:
Preferred name:
NM_004656.4(BAP1):c.1786del (p.Ser596fs)
HGVS:
  • NC_000003.12:g.52403242del
  • NG_031859.1:g.11752del
  • NM_004656.4:c.1786delMANE SELECT
  • NP_004647.1:p.Ser596fs
  • LRG_529t1:c.1786del
  • LRG_529:g.11752del
  • NC_000003.11:g.52437258del
  • NM_004656.2:c.1786delA
Protein change:
S596fs
Links:
dbSNP: rs2153226489
NCBI 1000 Genomes Browser:
rs2153226489
Molecular consequence:
  • NM_004656.4:c.1786del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002716062Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 22, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002716062.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1786delA pathogenic mutation, located in coding exon 14 of the BAP1 gene, results from a deletion of one nucleotide at nucleotide position 1786, causing a translational frameshift with a predicted alternate stop codon (p.S596Afs*21). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jul 15, 2024