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

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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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145661	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing
SCV000785272	Counsyl	criteria provided, single submitter Counsyl Autosomal Dominant Disease Classification criteria (2015)	Uncertain significance (Jun 23, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 28364669, 28111427, 16267036, 28480178 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV001284087	Illumina Laboratory Services,Illumina	criteria provided, single submitter ICSL Variant Classification Criteria 13 December 2019	Uncertain significance (May 4, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000145661

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Uncertain significance
(Feb 20, 2004)

germline

clinical testing

SCV000785272

Counsyl

criteria provided, single submitter

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Uncertain significance
(Jun 23, 2017)

unknown

clinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV001284087

Illumina Laboratory Services,Illumina

criteria provided, single submitter

ICSL Variant Classification Criteria 13 December 2019

Uncertain significance
(May 4, 2017)

germline

clinical testing

Citation Link

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Asian	germline	yes	3	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	3	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

From Counsyl, SCV000785272.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services,Illumina, SCV001284087.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 21, 2023

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