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NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
May 23, 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:
RCV000131394.5

Allele description

NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs)

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.68_69delAG (p.Glu23Valfs)
Other names:
185_186delAG
HGVS:
  • NC_000017.11:g.43124030_43124031delCT
  • NG_005905.2:g.93955_93956delAG
  • NM_007294.3:c.68_69delAG
  • NM_007297.3:c.-20_-19delAG
  • NM_007299.3:c.66_67delAG
  • NM_007300.3:c.66_67delAG
  • NP_009225.1:p.Glu23Valfs
  • NP_009230.2:p.Glu23Valfs
  • NP_009231.2:p.Glu23Valfs
  • LRG_292t1:c.68_69delAG
  • LRG_292:g.93955_93956delAG
  • LRG_292p1:p.Glu23Valfs
  • NC_000017.10:g.41276045_41276046delCT
  • NC_000017.10:g.41276047_41276048delCT
  • NC_000017.11:g.43124028_43124029delCT
  • NG_005905.2:g.93953_93954delAG
  • NM_007294.3:c.66_67del
  • NM_007294.3:c.66_67delAG
  • NM_007294.3:c.68_69del
  • NM_007297.3:c.-22_-21delAG
  • NM_007299.3:c.68_69delAG
  • NR_027676.1:n.227_228delAG
  • NR_027676.1:n.229_230delAG
  • U14680.1:c.66_67delAG
  • U14680.1:n.185_186delAG
  • p.E23VFS*17
  • p.E23VfsX17
  • p.Glu23Valfs*17
  • p.Glu23ValfsX17
  • p.Glu23fs
  • NM_007294.3(BRCA1):c.68_69delAG
  • NM_007294.3:c.68_69delAG(185delAG or 187delAG)
  • NR_027676.1:c.229_230delAG
Nucleotide change:
185delAG
Links:
Breast Cancer Information Core (BIC) (BRCA1): 185&base_change=del AG; OMIM: 113705.0003; dbSNP: rs386833395; dbSNP: rs80357783
NCBI 1000 Genomes Browser:
rs386833395
Allele Frequency:
0.00024(-)
Molecular consequence:
  • NM_007297.3:c.-20_-19delAG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_007294.3:c.68_69delAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.1:n.229_230delAG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]
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
SCV000186370Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))
Pathogenic
(Feb 7, 2017)
germlineclinical testing

PubMed (18)
[See all records that cite these PMIDs]

Citation Link,

SCV000292122Color
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 12, 2015)
germlineclinical testing

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

SCV000803154Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(May 23, 2018)
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

High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.

Lucas AL, Shakya R, Lipsyc MD, Mitchel EB, Kumar S, Hwang C, Deng L, Devoe C, Chabot JA, Szabolcs M, Ludwig T, Chung WK, Frucht H.

Clin Cancer Res. 2013 Jul 1;19(13):3396-403. doi: 10.1158/1078-0432.CCR-12-3020. Epub 2013 May 8.

PubMed [citation]
PMID:
23658460
PMCID:
PMC3959126

Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier.

Alanee S, Shah S, Murali R, Rau-Murthy R, Schrader KA, Offit K.

Fam Cancer. 2013 Mar;12(1):125-7. doi: 10.1007/s10689-012-9572-0.

PubMed [citation]
PMID:
23086583
PMCID:
PMC5073794
See all PubMed Citations (19)

Details of each submission

From Ambry Genetics, SCV000186370.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (18)

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, SCV000292122.1

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

From Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C., SCV000803154.1

#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 13, 2018