NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000985382.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)]

NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
Other names:
2307del14; 2307_2320del14
HGVS:
  • NC_000017.11:g.43093337_43093350del
  • NG_005905.2:g.124641_124654del
  • NM_007294.4:c.2188_2201delMANE SELECT
  • NM_007297.4:c.2047_2060del
  • NM_007298.3:c.787+1401_787+1414del
  • NM_007299.4:c.787+1401_787+1414del
  • NM_007300.4:c.2188_2201del
  • NP_009225.1:p.Glu730fs
  • NP_009228.2:p.Glu683fs
  • NP_009231.2:p.Glu730fs
  • LRG_292:g.124641_124654del
  • NC_000017.10:g.41245347_41245360del
  • NC_000017.10:g.41245354_41245367del
  • NM_007294.3:c.2188_2201delGAAAAAGAAGAGAA
  • NM_007294.4:c.2188_2201delGAAAAAGAAGAGAAMANE SELECT
  • NR_027676.2:n.2365_2378del
  • U14680.1:n.2307_2320delGAAAAAGAAGAGAA
Protein change:
E683fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2307&base_change=del GAAAAAGAAGAGAA; dbSNP: rs273898681
NCBI 1000 Genomes Browser:
rs273898681
Molecular consequence:
  • NM_007294.4:c.2188_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2047_2060del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2188_2201del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+1401_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1401_787+1414del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.2365_2378del - 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
SCV001133517Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Nov 16, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers.

Lim E, Vaillant F, Wu D, Forrest NC, Pal B, Hart AH, Asselin-Labat ML, Gyorki DE, Ward T, Partanen A, Feleppa F, Huschtscha LI, Thorne HJ; kConFab., Fox SB, Yan M, French JD, Brown MA, Smyth GK, Visvader JE, Lindeman GJ.

Nat Med. 2009 Aug;15(8):907-13. doi: 10.1038/nm.2000. Epub 2009 Aug 2.

PubMed [citation]
PMID:
19648928

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133517.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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: Sep 18, 2021

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