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NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jul 10, 2023
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:
RCV000496930.15

Allele description [Variation Report for NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)]

NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)
Other names:
2331del4
HGVS:
  • NC_000013.10:g.32910590_32910593del
  • NC_000013.11:g.32336454TATT[1]
  • NG_012772.3:g.25975TATT[1]
  • NM_000059.4:c.2103_2106delMANE SELECT
  • NP_000050.3:p.Phe701fs
  • LRG_293:g.25975TATT[1]
  • NC_000013.10:g.32910590_32910593del
  • NC_000013.10:g.32910591TATT[1]
  • NC_000013.10:g.32910595_32910598del
  • NC_000013.10:g.32910595_32910598delTATT
  • NM_000059.3:c.2103_2106delTATT
  • NM_000059.4:c.2103_2106del
  • U43746.1:n.2331_2334delTATT
  • p.Phe701fs
Protein change:
F701fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 2331&base_change=del TATT; dbSNP: rs80359324
NCBI 1000 Genomes Browser:
rs80359324
Molecular consequence:
  • NM_000059.4:c.2103_2106del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000587623Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014)
germlineresearch

SCV000694590Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Pathogenic
(Apr 25, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001401070Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jul 10, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

BRCA mutations in Italian breast/ovarian cancer families.

Nedelcu R, Liede A, Aubé J, Finch A, Kwan E, Jack E, Narod SA, Randall S, Hugel L, Clark K.

Eur J Hum Genet. 2002 Feb;10(2):150-2. No abstract available.

PubMed [citation]
PMID:
11938448

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257
See all PubMed Citations (3)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587623.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000694590.1

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

Description

Variant summary: The c.2103_2106delTATT variant is predicted to cause a frameshift, which alters the proteins amino acid sequence beginning at position 701 and leads to a premature termination codon 27 amino acids downstream. It is predicted to cause a truncated or absent BRCA2 protein, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.2564_2565delCA/p.T855fs). Mutation taster predicts damaging outcome for this variant. This variant is not found in 120680 control chromosomes. This variant has been reported in an Italian BrC family (Nedelcu_BRCA1&2_EJHG_2002). In addition, multiple reputable databases (BIC, ARUP) classified this variant as pathogenic. Taken together, this variant was classified as a Pathogenic.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001401070.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is also known as c.2331delTATT. ClinVar contains an entry for this variant (Variation ID: 51244). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11938448). This sequence change creates a premature translational stop signal (p.Phe701Leufs*28) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Jan 13, 2025