NM_007294.4(BRCA1):c.671-8A>G AND Hereditary cancer-predisposing syndrome

Clinical significance:Benign/Likely benign (Last evaluated: Jan 6, 2022)
Review status:2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000580371.4

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]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000683345	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter ACMG Guidelines, 2015	Benign (Oct 12, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002537887	Sema4,Sema4	criteria provided, single submitter Sema4 Curation Guidelines	Likely benign (Jan 6, 2022)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 28480178, 32467295 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000683345

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

ACMG Guidelines, 2015

Benign
(Oct 12, 2016)

germline

clinical testing

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

SCV002537887

Sema4,Sema4

criteria provided, single submitter

Sema4 Curation Guidelines

Likely benign
(Jan 6, 2022)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

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, curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.

Park HS, Park SJ, Kim JY, Kim S, Ryu J, Sohn J, Park S, Kim GM, Hwang IS, Choi JR, Kim SI.

Ann Surg Treat Res. 2017 May;92(5):331-339. doi: 10.4174/astr.2017.92.5.331. Epub 2017 Apr 27.

PubMed [citation]

PMID:: 28480178
PMCID:: PMC5416916

See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000683345.2

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

#	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

From Sema4,Sema4, SCV002537887.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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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