NM_007294.4(BRCA1):c.5075-9A>T AND not provided

Clinical significance:Likely benign (Last evaluated: Nov 30, 2020)

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:
RCV001284298.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5075-9A>T]

NM_007294.4(BRCA1):c.5075-9A>T

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.5075-9A>T
Other names:
IVS17-9A>T
HGVS:
  • NC_000017.11:g.43063960T>A
  • NG_005905.2:g.154024A>T
  • NM_007294.3:c.5075-9A>T
  • NM_007294.4:c.5075-9A>TMANE SELECT
  • NM_007297.4:c.4934-9A>T
  • NM_007298.3:c.1763-9A>T
  • NM_007299.4:c.1763-9A>T
  • NM_007300.4:c.5138-9A>T
  • LRG_292t1:c.5075-9A>T
  • LRG_292:g.154024A>T
  • NC_000017.10:g.41215977T>A
  • U14680.1:n.5194-9A>T
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5194-9&base_change=A to T; dbSNP: rs80358059
NCBI 1000 Genomes Browser:
rs80358059
Molecular consequence:
  • NM_007294.3:c.5075-9A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.5075-9A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4934-9A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.1763-9A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1763-9A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5138-9A>T - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000518084GeneDxcriteria provided, single submitter
Likely benign
(Nov 30, 2020)
germlineclinical testing

Citation Link,

SCV001470008Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Dec 29, 2019)
unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, et al.

Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11.

PubMed [citation]
PMID:
22505045

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]
PMID:
21990134
PMCID:
PMC3242438
See all PubMed Citations (5)

Details of each submission

From GeneDx, SCV000518084.5

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

Description

This variant is associated with the following publications: (PMID: 21990134, 29750258, 16267036, 22505045, 26913838, 17924331, 30209399)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470008.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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