NM_007294.3(BRCA1):c.2411_2412delAG (p.Gln804Leufs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 3, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000159906.2

Allele description

NM_007294.3(BRCA1):c.2411_2412delAG (p.Gln804Leufs)

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.2411_2412delAG (p.Gln804Leufs)
Other names:
2530_2531delAG
HGVS:
  • NC_000017.11:g.43093119_43093120delCT
  • NG_005905.2:g.124864_124865delAG
  • NM_007294.3:c.2411_2412delAG
  • NM_007298.3:c.787+1624_787+1625delAG
  • NM_007300.3:c.2411_2412delAG
  • NP_009225.1:p.Gln804Leufs
  • NP_009231.2:p.Gln804Leufs
  • LRG_292t1:c.2411_2412delAG
  • LRG_292:g.124864_124865delAG
  • LRG_292p1:p.Gln804Leufs
  • NC_000017.10:g.41245136_41245137delCT
  • NM_007294.3:c.2411_2412del
  • NR_027676.1:n.2547_2548delAG
  • U14680.1:n.2530_2531delAG
  • p.Gln804Leufs*5
  • p.Gln804LeufsX5
  • p.Q804LFS*5
  • p.Q804LfsX5
Nucleotide change:
2530delAG
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2530&base_change=del AG; dbSNP: rs80357664
NCBI 1000 Genomes Browser:
rs80357664
Molecular consequence:
  • NM_007294.3:c.2411_2412delAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+1624_787+1625delAG - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.2547_2548delAG - 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
SCV000210023GeneDxcriteria provided, single submitter
Pathogenic
(Mar 7, 2016)
germlineclinical testing

Citation Link,

SCV000600287Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Sep 3, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Induced micronucleus frequencies in peripheral lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families.

Rothfuss A, Sch├╝tz P, Bochum S, Volm T, Eberhardt E, Kreienberg R, Vogel W, Speit G.

Cancer Res. 2000 Jan 15;60(2):390-4.

PubMed [citation]
PMID:
10667592

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

Pohlreich P, Zikan M, Stribrna J, Kleibl Z, Janatova M, Kotlas J, Zidovska J, Novotny J, Petruzelka L, Szabo C, Matous B.

Breast Cancer Res. 2005;7(5):R728-36. Epub 2005 Jul 19.

PubMed [citation]
PMID:
16168118
PMCID:
PMC1242140
See all PubMed Citations (7)

Details of each submission

From GeneDx, SCV000210023.10

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

Description

This deletion of 2 nucleotides in BRCA1 is denoted c.2411_2412delAG at the cDNA level and p.Gln804LeufsX5 (Q804LfsX5) at the protein level. The normal sequence, with the bases that are deleted in braces, is AGTC[AG]TGTG. The deletion causes a frameshift, which changes a Glutamine to a Leucine at codon 804, and creates a premature stop codon at position 5 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. BRCA1 c.2411_2412delAG, also published as 2411delAG and 2530delAG, has been reported in several women with a history of breast and/or ovarian cancer (Rothfuss 2000, Chisholm 2008, Pal 2005, Pohlreich 2005, Machackova 2008, Couch 2015). 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, SCV000600287.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2017

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