NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) AND Breast-ovarian cancer, familial 1

Clinical significance:Uncertain significance (Last evaluated: Jun 12, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000112694.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)]

NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)

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.5522G>A (p.Ser1841Asn)
HGVS:
  • NC_000017.11:g.43045748C>T
  • NG_005905.2:g.172236G>A
  • NM_007294.3:c.5522G>A
  • NM_007294.4:c.5522G>AMANE SELECT
  • NM_007297.4:c.5381G>A
  • NM_007298.3:c.2210G>A
  • NM_007299.4:c.*36G>A
  • NM_007300.4:c.5585G>A
  • NP_009225.1:p.Ser1841Asn
  • NP_009225.1:p.Ser1841Asn
  • NP_009228.2:p.Ser1794Asn
  • NP_009229.2:p.Ser737Asn
  • NP_009231.2:p.Ser1862Asn
  • LRG_292t1:c.5522G>A
  • LRG_292:g.172236G>A
  • LRG_292p1:p.Ser1841Asn
  • NC_000017.10:g.41197765C>T
  • NR_027676.2:n.5699G>A
  • U14680.1:n.5641G>A
Protein change:
S1794N
Links:
dbSNP: rs80357368
NCBI 1000 Genomes Browser:
rs80357368
Molecular consequence:
  • NM_007299.4:c.*36G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007294.3:c.5522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.3:c.2210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5585G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5699G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
4

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
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
SCV000145566Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Jun 12, 2000)
germlineclinical testing

SCV001244053Brotman Baty Institute,University of Washingtonno assertion providednot providednot applicablein vitro

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlineyes1not providednot providednot providednot providedclinical testing
Caucasiangermlineyes2not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145566.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Caucasian1not providednot providedclinical testingnot provided
3Caucasian1not providednot providedclinical testingnot provided
4Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided

From Brotman Baty Institute,University of Washington, SCV001244053.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 18, 2021

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