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NM_004656.4(BAP1):c.1839_1848dup (p.Arg617fs) AND BAP1-related tumor predisposition syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 13, 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:
RCV003334768.2

Allele description [Variation Report for NM_004656.4(BAP1):c.1839_1848dup (p.Arg617fs)]

NM_004656.4(BAP1):c.1839_1848dup (p.Arg617fs)

Gene:
BAP1:BRCA1 associated deubiquitinase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p21.1
Genomic location:
Preferred name:
NM_004656.4(BAP1):c.1839_1848dup (p.Arg617fs)
HGVS:
  • NC_000003.12:g.52403180_52403189dup
  • NG_031859.1:g.11805_11814dup
  • NM_001410772.1:c.1785_1794dup
  • NM_004656.4:c.1839_1848dupMANE SELECT
  • NP_001397701.1:p.Arg599fs
  • NP_004647.1:p.Arg617Glyfs
  • NP_004647.1:p.Arg617fs
  • LRG_529t1:c.1839_1848dup
  • LRG_529:g.11805_11814dup
  • LRG_529p1:p.Arg617Glyfs
  • NC_000003.11:g.52437196_52437205dup
  • NM_004656.2:c.1839_1848dup
Protein change:
R599fs
Molecular consequence:
  • NM_001410772.1:c.1785_1794dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004656.4:c.1839_1848dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
BAP1-related tumor predisposition syndrome (TPDS1)
Synonyms:
Tumor predisposition syndrome; Tumor susceptibility linked to germline BAP1 mutations; BAP1 tumor predisposition syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013692; MedGen: C3280492; Orphanet: 289539; OMIM: 614327

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004043927Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jun 13, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004043927.2

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Jul 15, 2024