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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

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000683345Color Diagnostics, LLC DBA Color Healthcriteria provided, single submitter
Benign
(Oct 12, 2016)
germlineclinical testing

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

SCV002537887Sema4,Sema4criteria provided, single submitter
Likely benign
(Jan 6, 2022)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#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 Sema4,Sema4, SCV002537887.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 21, 2023

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