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NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 5, 2016
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:
RCV000131815.5

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000186870Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Pathogenic
(Oct 5, 2016)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV000292140Color
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 7, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer.

Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TR, Smith SA, Collins FS, Tucker MA.

Am J Hum Genet. 1995 Jul;57(1):1-7.

PubMed [citation]
PMID:
7611277
PMCID:
PMC1801253

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
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000186870.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (7)

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color, SCV000292140.1

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

Last Updated: Oct 29, 2018