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NM_000059.4(BRCA2):c.4000_4001del (p.Leu1334fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 2014
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:
RCV000160282.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.4000_4001del (p.Leu1334fs)]

NM_000059.4(BRCA2):c.4000_4001del (p.Leu1334fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.4000_4001del (p.Leu1334fs)
HGVS:
  • NC_000013.11:g.32338355_32338356del
  • NG_012772.3:g.27876_27877del
  • NM_000059.4:c.4000_4001delMANE SELECT
  • NP_000050.2:p.Leu1334fs
  • NP_000050.3:p.Leu1334fs
  • LRG_293t1:c.4000_4001del
  • LRG_293:g.27876_27877del
  • LRG_293p1:p.Leu1334fs
  • NC_000013.10:g.32912492_32912493del
  • NM_000059.3:c.4000_4001del
  • NM_000059.3:c.4000_4001delTT
  • p.L1334RfsX3
Nucleotide change:
4228delTT
Protein change:
L1334fs
Links:
dbSNP: rs398122775
NCBI 1000 Genomes Browser:
rs398122775
Molecular consequence:
  • NM_000059.4:c.4000_4001del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000210742GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 5, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000210742.4

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

Description

This pathogenic variant is denoted BRCA2 c.4000_4001delTT at the cDNA level and p.Leu1334ArgfsX3 (L1334RfsX3) at the protein level. The normal sequence with the bases that are deleted in brackets is TAAC[TT]AGAA. The deletion causes a frameshift, changing a Leucine to an Arginine at codon 1334, and creating a premature stop codon at position 3 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although BRCA2 c.4000_4001delTT, also known as c.4228_4229delTT using alternate nomenclature, has not been previously reported to our knowledge, it is considered pathogenic.

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

Last Updated: Nov 10, 2024