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NM_007294.4(BRCA1):c.*800T>C AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000662768.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.*800T>C]

NM_007294.4(BRCA1):c.*800T>C

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.*800T>C
HGVS:
  • NC_000017.11:g.43044878A>G
  • NG_005905.2:g.173106T>C
  • NM_001407571.1:c.*800T>C
  • NM_001407581.1:c.*800T>C
  • NM_001407582.1:c.*800T>C
  • NM_001407583.1:c.*800T>C
  • NM_001407585.1:c.*800T>C
  • NM_001407587.1:c.*800T>C
  • NM_001407590.1:c.*800T>C
  • NM_001407591.1:c.*800T>C
  • NM_001407593.1:c.*800T>C
  • NM_001407594.1:c.*800T>C
  • NM_001407596.1:c.*800T>C
  • NM_001407597.1:c.*800T>C
  • NM_001407598.1:c.*800T>C
  • NM_001407602.1:c.*800T>C
  • NM_001407603.1:c.*800T>C
  • NM_001407605.1:c.*800T>C
  • NM_001407610.1:c.*800T>C
  • NM_001407611.1:c.*800T>C
  • NM_001407612.1:c.*800T>C
  • NM_001407613.1:c.*800T>C
  • NM_001407614.1:c.*800T>C
  • NM_001407615.1:c.*800T>C
  • NM_001407616.1:c.*800T>C
  • NM_001407617.1:c.*800T>C
  • NM_001407618.1:c.*800T>C
  • NM_001407619.1:c.*800T>C
  • NM_001407620.1:c.*800T>C
  • NM_001407621.1:c.*800T>C
  • NM_001407622.1:c.*800T>C
  • NM_001407623.1:c.*800T>C
  • NM_001407624.1:c.*800T>C
  • NM_001407625.1:c.*800T>C
  • NM_001407626.1:c.*800T>C
  • NM_001407627.1:c.*800T>C
  • NM_001407628.1:c.*800T>C
  • NM_001407629.1:c.*800T>C
  • NM_001407630.1:c.*800T>C
  • NM_001407631.1:c.*800T>C
  • NM_001407632.1:c.*800T>C
  • NM_001407633.1:c.*800T>C
  • NM_001407634.1:c.*800T>C
  • NM_001407635.1:c.*800T>C
  • NM_001407636.1:c.*800T>C
  • NM_001407637.1:c.*800T>C
  • NM_001407638.1:c.*800T>C
  • NM_001407639.1:c.*800T>C
  • NM_001407640.1:c.*800T>C
  • NM_001407641.1:c.*800T>C
  • NM_001407642.1:c.*800T>C
  • NM_001407644.1:c.*800T>C
  • NM_001407645.1:c.*800T>C
  • NM_001407646.1:c.*800T>C
  • NM_001407647.1:c.*800T>C
  • NM_001407648.1:c.*800T>C
  • NM_001407649.1:c.*800T>C
  • NM_001407652.1:c.*800T>C
  • NM_001407653.1:c.*800T>C
  • NM_001407654.1:c.*800T>C
  • NM_001407655.1:c.*800T>C
  • NM_001407656.1:c.*800T>C
  • NM_001407657.1:c.*800T>C
  • NM_001407658.1:c.*800T>C
  • NM_001407659.1:c.*800T>C
  • NM_001407660.1:c.*800T>C
  • NM_001407661.1:c.*800T>C
  • NM_001407662.1:c.*800T>C
  • NM_001407663.1:c.*800T>C
  • NM_001407664.1:c.*800T>C
  • NM_001407665.1:c.*800T>C
  • NM_001407666.1:c.*800T>C
  • NM_001407667.1:c.*800T>C
  • NM_001407668.1:c.*800T>C
  • NM_001407669.1:c.*800T>C
  • NM_001407670.1:c.*800T>C
  • NM_001407671.1:c.*800T>C
  • NM_001407672.1:c.*800T>C
  • NM_001407673.1:c.*800T>C
  • NM_001407674.1:c.*800T>C
  • NM_001407675.1:c.*800T>C
  • NM_001407676.1:c.*800T>C
  • NM_001407677.1:c.*800T>C
  • NM_001407678.1:c.*800T>C
  • NM_001407679.1:c.*800T>C
  • NM_001407680.1:c.*800T>C
  • NM_001407681.1:c.*800T>C
  • NM_001407682.1:c.*800T>C
  • NM_001407683.1:c.*800T>C
  • NM_001407684.1:c.*800T>C
  • NM_001407685.1:c.*800T>C
  • NM_001407686.1:c.*800T>C
  • NM_001407687.1:c.*800T>C
  • NM_001407688.1:c.*800T>C
  • NM_001407689.1:c.*800T>C
  • NM_001407690.1:c.*800T>C
  • NM_001407691.1:c.*800T>C
  • NM_001407692.1:c.*800T>C
  • NM_001407694.1:c.*800T>C
  • NM_001407695.1:c.*800T>C
  • NM_001407696.1:c.*800T>C
  • NM_001407697.1:c.*800T>C
  • NM_001407698.1:c.*800T>C
  • NM_001407724.1:c.*800T>C
  • NM_001407725.1:c.*800T>C
  • NM_001407726.1:c.*800T>C
  • NM_001407727.1:c.*800T>C
  • NM_001407728.1:c.*800T>C
  • NM_001407729.1:c.*800T>C
  • NM_001407730.1:c.*800T>C
  • NM_001407731.1:c.*800T>C
  • NM_001407732.1:c.*800T>C
  • NM_001407733.1:c.*800T>C
  • NM_001407734.1:c.*800T>C
  • NM_001407735.1:c.*800T>C
  • NM_001407736.1:c.*800T>C
  • NM_001407737.1:c.*800T>C
  • NM_001407738.1:c.*800T>C
  • NM_001407739.1:c.*800T>C
  • NM_001407740.1:c.*800T>C
  • NM_001407741.1:c.*800T>C
  • NM_001407742.1:c.*800T>C
  • NM_001407743.1:c.*800T>C
  • NM_001407744.1:c.*800T>C
  • NM_001407745.1:c.*800T>C
  • NM_001407746.1:c.*800T>C
  • NM_001407747.1:c.*800T>C
  • NM_001407748.1:c.*800T>C
  • NM_001407749.1:c.*800T>C
  • NM_001407750.1:c.*800T>C
  • NM_001407751.1:c.*800T>C
  • NM_001407752.1:c.*800T>C
  • NM_001407838.1:c.*800T>C
  • NM_001407839.1:c.*800T>C
  • NM_001407841.1:c.*800T>C
  • NM_001407842.1:c.*800T>C
  • NM_001407843.1:c.*800T>C
  • NM_001407844.1:c.*800T>C
  • NM_001407845.1:c.*800T>C
  • NM_001407846.1:c.*800T>C
  • NM_001407847.1:c.*800T>C
  • NM_001407848.1:c.*800T>C
  • NM_001407849.1:c.*800T>C
  • NM_001407850.1:c.*800T>C
  • NM_001407851.1:c.*800T>C
  • NM_001407852.1:c.*800T>C
  • NM_001407853.1:c.*800T>C
  • NM_001407854.1:c.*906T>C
  • NM_001407858.1:c.*906T>C
  • NM_001407859.1:c.*906T>C
  • NM_001407860.1:c.*906T>C
  • NM_001407861.1:c.*906T>C
  • NM_001407862.1:c.*800T>C
  • NM_001407863.1:c.*800T>C
  • NM_001407874.1:c.*800T>C
  • NM_001407875.1:c.*800T>C
  • NM_001407879.1:c.*800T>C
  • NM_001407881.1:c.*800T>C
  • NM_001407882.1:c.*800T>C
  • NM_001407884.1:c.*800T>C
  • NM_001407885.1:c.*800T>C
  • NM_001407886.1:c.*800T>C
  • NM_001407887.1:c.*800T>C
  • NM_001407889.1:c.*800T>C
  • NM_001407894.1:c.*800T>C
  • NM_001407895.1:c.*800T>C
  • NM_001407896.1:c.*800T>C
  • NM_001407897.1:c.*800T>C
  • NM_001407898.1:c.*800T>C
  • NM_001407899.1:c.*800T>C
  • NM_001407900.1:c.*800T>C
  • NM_001407902.1:c.*800T>C
  • NM_001407904.1:c.*800T>C
  • NM_001407906.1:c.*800T>C
  • NM_001407907.1:c.*800T>C
  • NM_001407908.1:c.*800T>C
  • NM_001407909.1:c.*800T>C
  • NM_001407910.1:c.*800T>C
  • NM_001407915.1:c.*800T>C
  • NM_001407916.1:c.*800T>C
  • NM_001407917.1:c.*800T>C
  • NM_001407918.1:c.*800T>C
  • NM_001407919.1:c.*800T>C
  • NM_001407920.1:c.*800T>C
  • NM_001407921.1:c.*800T>C
  • NM_001407922.1:c.*800T>C
  • NM_001407923.1:c.*800T>C
  • NM_001407924.1:c.*800T>C
  • NM_001407925.1:c.*800T>C
  • NM_001407926.1:c.*800T>C
  • NM_001407927.1:c.*800T>C
  • NM_001407928.1:c.*800T>C
  • NM_001407929.1:c.*800T>C
  • NM_001407930.1:c.*800T>C
  • NM_001407931.1:c.*800T>C
  • NM_001407932.1:c.*800T>C
  • NM_001407933.1:c.*800T>C
  • NM_001407934.1:c.*800T>C
  • NM_001407935.1:c.*800T>C
  • NM_001407936.1:c.*800T>C
  • NM_001407937.1:c.*906T>C
  • NM_001407938.1:c.*906T>C
  • NM_001407939.1:c.*906T>C
  • NM_001407940.1:c.*906T>C
  • NM_001407941.1:c.*906T>C
  • NM_001407942.1:c.*906T>C
  • NM_001407943.1:c.*906T>C
  • NM_001407944.1:c.*906T>C
  • NM_001407945.1:c.*906T>C
  • NM_001407946.1:c.*800T>C
  • NM_001407947.1:c.*800T>C
  • NM_001407948.1:c.*800T>C
  • NM_001407949.1:c.*800T>C
  • NM_001407950.1:c.*800T>C
  • NM_001407951.1:c.*800T>C
  • NM_001407952.1:c.*800T>C
  • NM_001407953.1:c.*800T>C
  • NM_001407954.1:c.*800T>C
  • NM_001407955.1:c.*800T>C
  • NM_001407956.1:c.*800T>C
  • NM_001407957.1:c.*800T>C
  • NM_001407958.1:c.*800T>C
  • NM_001407959.1:c.*800T>C
  • NM_001407960.1:c.*800T>C
  • NM_001407962.1:c.*800T>C
  • NM_001407963.1:c.*800T>C
  • NM_001407964.1:c.*800T>C
  • NM_001407965.1:c.*800T>C
  • NM_001407966.1:c.*800T>C
  • NM_001407967.1:c.*800T>C
  • NM_001407968.1:c.*800T>C
  • NM_001407969.1:c.*800T>C
  • NM_001407970.1:c.*800T>C
  • NM_001407971.1:c.*800T>C
  • NM_001407972.1:c.*800T>C
  • NM_001407973.1:c.*800T>C
  • NM_001407974.1:c.*800T>C
  • NM_001407975.1:c.*800T>C
  • NM_001407976.1:c.*800T>C
  • NM_001407977.1:c.*800T>C
  • NM_001407978.1:c.*800T>C
  • NM_001407979.1:c.*800T>C
  • NM_001407980.1:c.*800T>C
  • NM_001407981.1:c.*800T>C
  • NM_001407982.1:c.*800T>C
  • NM_001407983.1:c.*800T>C
  • NM_001407984.1:c.*800T>C
  • NM_001407985.1:c.*800T>C
  • NM_001407986.1:c.*800T>C
  • NM_001407990.1:c.*800T>C
  • NM_001407991.1:c.*800T>C
  • NM_001407992.1:c.*800T>C
  • NM_001407993.1:c.*800T>C
  • NM_001408392.1:c.*800T>C
  • NM_001408396.1:c.*800T>C
  • NM_001408397.1:c.*800T>C
  • NM_001408398.1:c.*800T>C
  • NM_001408399.1:c.*800T>C
  • NM_001408400.1:c.*800T>C
  • NM_001408401.1:c.*800T>C
  • NM_001408402.1:c.*800T>C
  • NM_001408403.1:c.*800T>C
  • NM_001408404.1:c.*800T>C
  • NM_001408406.1:c.*800T>C
  • NM_001408407.1:c.*800T>C
  • NM_001408408.1:c.*800T>C
  • NM_001408409.1:c.*800T>C
  • NM_001408410.1:c.*800T>C
  • NM_001408411.1:c.*800T>C
  • NM_001408412.1:c.*800T>C
  • NM_001408413.1:c.*800T>C
  • NM_001408414.1:c.*800T>C
  • NM_001408415.1:c.*800T>C
  • NM_001408416.1:c.*800T>C
  • NM_001408418.1:c.*800T>C
  • NM_001408419.1:c.*800T>C
  • NM_001408420.1:c.*800T>C
  • NM_001408421.1:c.*800T>C
  • NM_001408422.1:c.*800T>C
  • NM_001408423.1:c.*800T>C
  • NM_001408424.1:c.*800T>C
  • NM_001408425.1:c.*800T>C
  • NM_001408426.1:c.*800T>C
  • NM_001408427.1:c.*800T>C
  • NM_001408428.1:c.*800T>C
  • NM_001408429.1:c.*800T>C
  • NM_001408430.1:c.*800T>C
  • NM_001408431.1:c.*800T>C
  • NM_001408432.1:c.*800T>C
  • NM_001408433.1:c.*800T>C
  • NM_001408434.1:c.*800T>C
  • NM_001408435.1:c.*800T>C
  • NM_001408436.1:c.*800T>C
  • NM_001408437.1:c.*800T>C
  • NM_001408438.1:c.*800T>C
  • NM_001408439.1:c.*800T>C
  • NM_001408440.1:c.*800T>C
  • NM_001408441.1:c.*800T>C
  • NM_001408442.1:c.*800T>C
  • NM_001408443.1:c.*800T>C
  • NM_001408444.1:c.*800T>C
  • NM_001408445.1:c.*800T>C
  • NM_001408446.1:c.*800T>C
  • NM_001408447.1:c.*800T>C
  • NM_001408448.1:c.*800T>C
  • NM_001408450.1:c.*800T>C
  • NM_001408451.1:c.*800T>C
  • NM_001408452.1:c.*800T>C
  • NM_001408453.1:c.*800T>C
  • NM_001408454.1:c.*800T>C
  • NM_001408455.1:c.*800T>C
  • NM_001408456.1:c.*800T>C
  • NM_001408457.1:c.*800T>C
  • NM_001408458.1:c.*800T>C
  • NM_001408459.1:c.*800T>C
  • NM_001408460.1:c.*800T>C
  • NM_001408461.1:c.*800T>C
  • NM_001408462.1:c.*800T>C
  • NM_001408463.1:c.*800T>C
  • NM_001408464.1:c.*800T>C
  • NM_001408465.1:c.*800T>C
  • NM_001408466.1:c.*800T>C
  • NM_001408467.1:c.*800T>C
  • NM_001408468.1:c.*800T>C
  • NM_001408469.1:c.*800T>C
  • NM_001408470.1:c.*800T>C
  • NM_001408472.1:c.*906T>C
  • NM_001408473.1:c.*906T>C
  • NM_001408474.1:c.*800T>C
  • NM_001408475.1:c.*800T>C
  • NM_001408476.1:c.*800T>C
  • NM_001408478.1:c.*800T>C
  • NM_001408479.1:c.*800T>C
  • NM_001408480.1:c.*800T>C
  • NM_001408481.1:c.*800T>C
  • NM_001408482.1:c.*800T>C
  • NM_001408483.1:c.*800T>C
  • NM_001408484.1:c.*800T>C
  • NM_001408485.1:c.*800T>C
  • NM_001408489.1:c.*800T>C
  • NM_001408490.1:c.*800T>C
  • NM_001408491.1:c.*800T>C
  • NM_001408492.1:c.*800T>C
  • NM_001408493.1:c.*800T>C
  • NM_001408494.1:c.*800T>C
  • NM_001408495.1:c.*800T>C
  • NM_001408496.1:c.*800T>C
  • NM_001408497.1:c.*800T>C
  • NM_001408498.1:c.*800T>C
  • NM_001408499.1:c.*800T>C
  • NM_001408500.1:c.*800T>C
  • NM_001408501.1:c.*800T>C
  • NM_001408502.1:c.*800T>C
  • NM_001408503.1:c.*800T>C
  • NM_001408504.1:c.*800T>C
  • NM_001408505.1:c.*800T>C
  • NM_001408506.1:c.*800T>C
  • NM_001408507.1:c.*800T>C
  • NM_001408508.1:c.*800T>C
  • NM_001408509.1:c.*800T>C
  • NM_001408510.1:c.*800T>C
  • NM_001408511.1:c.*800T>C
  • NM_001408512.1:c.*800T>C
  • NM_001408513.1:c.*800T>C
  • NM_001408514.1:c.*800T>C
  • NM_007294.4:c.*800T>CMANE SELECT
  • NM_007297.4:c.*800T>C
  • NM_007298.4:c.*800T>C
  • NM_007299.4:c.*906T>C
  • NM_007300.4:c.*800T>C
  • NM_007304.2:c.*800T>C
  • LRG_292t1:c.*800T>C
  • LRG_292:g.173106T>C
  • NC_000017.10:g.41196895A>G
  • NM_007294.3:c.*800T>C
  • NM_007298.3:c.*800T>C
  • NR_027676.2:n.6569T>C
Links:
dbSNP: rs1555574136
NCBI 1000 Genomes Browser:
rs1555574136
Molecular consequence:
  • NM_007294.4:c.*800T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007297.4:c.*800T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007299.4:c.*906T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007300.4:c.*800T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_027676.2:n.6569T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000785567Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Sep 20, 2017) 		unknownclinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.

Brewster BL, Rossiello F, French JD, Edwards SL, Wong M, Wronski A, Whiley P, Waddell N, Chen X, Bove B; kConFab., Hopper JL, John EM, Andrulis I, Daly M, Volorio S, Bernard L, Peissel B, Manoukian S, Barile M, Pizzamiglio S, Verderio P, et al.

Hum Mutat. 2012 Dec;33(12):1665-75. doi: 10.1002/humu.22159. Epub 2012 Aug 2.

PubMed [citation]
PMID:
22753153

Details of each submission

From Counsyl, SCV000785567.2

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

Last Updated: Mar 30, 2024