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NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Apr 26, 2018
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:
RCV000159917.5

Allele description

NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)
Other names:
3598del11; 3600_3610delGAAGATACTAG
HGVS:
  • NC_000017.11:g.43092040_43092050delCTAGTATCTTC
  • NG_005905.2:g.125934_125944delGAAGATACTAG
  • NM_007294.3:c.3481_3491delGAAGATACTAG
  • NP_009225.1:p.Glu1161Phefs
  • LRG_292t1:c.3481_3491delGAAGATACTAG
  • LRG_292:g.125934_125944delGAAGATACTAG
  • LRG_292p1:p.Glu1161Phefs
  • NC_000017.10:g.41244057_41244067del
  • NC_000017.10:g.41244057_41244067delCTAGTATCTTC
  • NM_007294.3:c.3481_3491del
  • NM_007294.3:c.3481_3491del11
  • NP_009225.1:p.Glu1161_Ser1164?fs
  • U14680.1:c.3481_3491delGAAGATACTAG
  • U14680.1:n.3600_3610delGAAGATACTAG
  • p.E1161FFS*3
  • p.E1161FfsX3
  • p.Glu1161Phefs*3
  • p.Glu1161PhefsX3
Nucleotide change:
3600del11
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3598&base_change=del AGGAAGATACT; Breast Cancer Information Core (BIC) (BRCA1): 3600&base_change=del GAAGATACTAG; OMIM: 113705.0025; dbSNP: rs80357877
NCBI 1000 Genomes Browser:
rs80357877
Molecular consequence:
  • NM_007294.3:c.3481_3491delGAAGATACTAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.788-1018_788-1008del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.3617_3627delGAAGATACTAG - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000210040GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Apr 26, 2018)
germlineclinical testing

Citation Link,

SCV000296335Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest pathogenicity assessment criteria)
Pathogenic
(May 11, 2015)
germlineclinical testing

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

SCV000778746Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
no assertion criteria provided
Pathogenic
(Dec 7, 2017)
unknownclinical testing

Summary from all submissions

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

Citations

PubMed

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O, Osorio A, Durán M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, Vega A, Campos B, Rodríguez-López R, Velasco E, Chaves J, Díaz-Rubio E, Jesús Cruz J, Torres M, Esteban E, Cervantes A, Alonso C, San Román JM, González-Sarmiento R, Miner C, Carracedo A, Eugenia Armengod M, et al.

Hum Mutat. 2003 Oct;22(4):301-12.

PubMed [citation]
PMID:
12955716

BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.

Muller D, Bonaiti-Pellié C, Abecassis J, Stoppa-Lyonnet D, Fricker JP.

Fam Cancer. 2004;3(1):15-20.

PubMed [citation]
PMID:
15131401
See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000210040.10

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

Description

This deletion of 11 nucleotides in BRCA1 is denoted c.3481_3491del11 at the cDNA level and p.Glu1161PhefsX3 (E1161FfsX3) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAAG[del11]TTTTG. The deletion causes a frameshift, which changes a Glutamic Acid to a Phenylalanine at codon 1161 and creates 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. This variant, also denoted as BRCA1 3600del11 using alternate nomenclature, has been reported in association with hereditary breast and ovarian cancer and is considered to be a pathogenic founder variant in France (Struewing 1995, Diez 2003, Muller 2004, de Juan Jimenez 2013). Based on currently available information, we consider this to be a pathogenic variant.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296335.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000778746.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 9, 2018