NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000111771.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)]

NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
HGVS:
  • NC_000017.11:g.43093426A>C
  • NG_005905.2:g.124558T>G
  • NM_007294.3:c.2105T>G
  • NM_007294.4:c.2105T>GMANE SELECT
  • NM_007297.4:c.1964T>G
  • NM_007298.3:c.787+1318T>G
  • NM_007299.4:c.787+1318T>G
  • NM_007300.4:c.2105T>G
  • NP_009225.1:p.Leu702Ter
  • NP_009225.1:p.Leu702Ter
  • NP_009228.2:p.Leu655Ter
  • NP_009231.2:p.Leu702Ter
  • LRG_292t1:c.2105T>G
  • LRG_292:g.124558T>G
  • LRG_292p1:p.Leu702Ter
  • NC_000017.10:g.41245443A>C
  • NM_007294.4:c.2105T>G
  • NR_027676.2:n.2282T>G
  • U14680.1:n.2224T>G
Protein change:
L655*
Links:
dbSNP: rs80357298
NCBI 1000 Genomes Browser:
rs80357298
Molecular consequence:
  • NM_007298.3:c.787+1318T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1318T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.2282T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007294.3:c.2105T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.2105T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.1964T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.2105T>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000144302Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(Nov 25, 2004)
germlineclinical testing

SCV000299700Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Sep 8, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000785811Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 6, 2017)
unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Latin American, Caribbeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144302.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Latin American, Caribbean1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299700.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

From Counsyl, SCV000785811.2

#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: Sep 18, 2021

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