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NM_007294.4(BRCA1):c.671-8A>G AND Breast-ovarian cancer, familial, susceptibility to, 1

Clinical significance:Uncertain significance (Last evaluated: Jun 23, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000112769.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.671-8A>G]

NM_007294.4(BRCA1):c.671-8A>G

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.671-8A>G
Other names:
IVS10-8A>G
HGVS:
  • NC_000017.11:g.43094868T>C
  • NG_005905.2:g.123116A>G
  • NM_007294.4:c.671-8A>GMANE SELECT
  • NM_007297.4:c.530-8A>G
  • NM_007298.3:c.671-8A>G
  • NM_007299.4:c.671-8A>G
  • NM_007300.4:c.671-8A>G
  • LRG_292t1:c.671-8A>G
  • LRG_292:g.123116A>G
  • NC_000017.10:g.41246885T>C
  • NM_007294.3:c.671-8A>G
  • U14680.1:n.790-8A>G
Links:
Breast Cancer Information Core (BIC) (BRCA1): 790-8&base_change=A to G; dbSNP: rs80358144
NCBI 1000 Genomes Browser:
rs80358144
Molecular consequence:
  • NM_007294.4:c.671-8A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.530-8A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.671-8A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.671-8A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.671-8A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
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
SCV000145661Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Feb 20, 2004)
germlineclinical testing

SCV000785272Counsylcriteria provided, single submitter
Uncertain significance
(Jun 23, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV001284087Illumina Laboratory Services,Illuminacriteria provided, single submitter
Uncertain significance
(May 4, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Asiangermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

Ryu JM, Kang G, Nam SJ, Kim SW, Yu J, Lee SK, Bae SY, Park S, Paik HJ, Kim JW, Park SS, Lee JE, Kim SW.

Breast. 2017 Jun;33:109-116. doi: 10.1016/j.breast.2017.03.006. Epub 2017 Mar 30.

PubMed [citation]
PMID:
28364669

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Park JS, Nam EJ, Park HS, Han JW, Lee JY, Kim J, Kim TI, Lee ST.

Cancer Res Treat. 2017 Oct;49(4):1012-1021. doi: 10.4143/crt.2016.433. Epub 2017 Jan 17.

PubMed [citation]
PMID:
28111427
PMCID:
PMC5654176
See all PubMed Citations (4)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145661.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

From Counsyl, SCV000785272.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services,Illumina, SCV001284087.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Jan 21, 2023