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NM_000059.4(BRCA2):c.7655_7658del (p.Ile2552fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 9, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000479230.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.7655_7658del (p.Ile2552fs)]

NM_000059.4(BRCA2):c.7655_7658del (p.Ile2552fs)

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.7655_7658del (p.Ile2552fs)
Other names:
7883del4
HGVS:
  • NC_000013.10:g.32931914_32931917del
  • NC_000013.11:g.32357779_32357782del
  • NG_012772.3:g.47300_47303del
  • NM_000059.4:c.7655_7658delMANE SELECT
  • NP_000050.3:p.Ile2552fs
  • LRG_293:g.47300_47303del
  • NC_000013.10:g.32931914_32931917del
  • NC_000013.10:g.32931916_32931919del
  • NC_000013.10:g.32931916_32931919delTTAA
  • NM_000059.3:c.7655_7658delTTAA
  • U43746.1:n.7883_7886delTTAA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 7883&base_change=del TTAA; dbSNP: rs80359669
NCBI 1000 Genomes Browser:
rs80359669
Molecular consequence:
  • NM_000059.4:c.7655_7658del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568484GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Aug 31, 2016)
germlineclinical testing

Citation Link,

SCV001133913Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Pathogenic
(Jul 9, 2019)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer.

Celik E, Ermis Tekkus K, Akcay IM, Alkurt Sal G, Ezberci F, Dinler Doganay G, Doganay L.

Clin Case Rep. 2018 Sep;6(9):1751-1755. doi: 10.1002/ccr3.1625.

PubMed [citation]
PMID:
30214756
PMCID:
PMC6132100

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.

Lai S, Brookes C, Prosser DO, Lan CC, Doherty E, Love DR.

Sultan Qaboos Univ Med J. 2015 Feb;15(1):e58-70. Epub 2015 Jan 21.

PubMed [citation]
PMID:
25685387
PMCID:
PMC4318608
See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000568484.4

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

Description

This deletion of four nucleotides in BRCA2 is denoted c.7655_7658delTTAA at the cDNA level and p.Ile2552ThrfsX95 (I2552TfsX95) at the protein level. The normal sequence, with the bases that are deleted in braces, is TAAAAA[TTAA]CAGC. The deletion causes a frameshift which changes an Isoleucine to a Threonine at codon 2552, and creates a premature stop codon at position 95 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. Also reported as BRCA2 7883delTTAA using alternate nomenclature, this variant has been observed in at least one individual with early-onset breast cancer (Zhi 2002). We consider this variant to be pathogenic.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133913.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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

Last Updated: Nov 24, 2024