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NM_007294.4(BRCA1):c.*750A>G AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Likely benign (2 submissions)
Last evaluated:
May 28, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000989861.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.*750A>G]

NM_007294.4(BRCA1):c.*750A>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.*750A>G
HGVS:
  • NC_000017.11:g.43044928T>C
  • NG_005905.2:g.173056A>G
  • NM_001407571.1:c.*750A>G
  • NM_001407581.1:c.*750A>G
  • NM_001407582.1:c.*750A>G
  • NM_001407583.1:c.*750A>G
  • NM_001407585.1:c.*750A>G
  • NM_001407587.1:c.*750A>G
  • NM_001407590.1:c.*750A>G
  • NM_001407591.1:c.*750A>G
  • NM_001407593.1:c.*750A>G
  • NM_001407594.1:c.*750A>G
  • NM_001407596.1:c.*750A>G
  • NM_001407597.1:c.*750A>G
  • NM_001407598.1:c.*750A>G
  • NM_001407602.1:c.*750A>G
  • NM_001407603.1:c.*750A>G
  • NM_001407605.1:c.*750A>G
  • NM_001407610.1:c.*750A>G
  • NM_001407611.1:c.*750A>G
  • NM_001407612.1:c.*750A>G
  • NM_001407613.1:c.*750A>G
  • NM_001407614.1:c.*750A>G
  • NM_001407615.1:c.*750A>G
  • NM_001407616.1:c.*750A>G
  • NM_001407617.1:c.*750A>G
  • NM_001407618.1:c.*750A>G
  • NM_001407619.1:c.*750A>G
  • NM_001407620.1:c.*750A>G
  • NM_001407621.1:c.*750A>G
  • NM_001407622.1:c.*750A>G
  • NM_001407623.1:c.*750A>G
  • NM_001407624.1:c.*750A>G
  • NM_001407625.1:c.*750A>G
  • NM_001407626.1:c.*750A>G
  • NM_001407627.1:c.*750A>G
  • NM_001407628.1:c.*750A>G
  • NM_001407629.1:c.*750A>G
  • NM_001407630.1:c.*750A>G
  • NM_001407631.1:c.*750A>G
  • NM_001407632.1:c.*750A>G
  • NM_001407633.1:c.*750A>G
  • NM_001407634.1:c.*750A>G
  • NM_001407635.1:c.*750A>G
  • NM_001407636.1:c.*750A>G
  • NM_001407637.1:c.*750A>G
  • NM_001407638.1:c.*750A>G
  • NM_001407639.1:c.*750A>G
  • NM_001407640.1:c.*750A>G
  • NM_001407641.1:c.*750A>G
  • NM_001407642.1:c.*750A>G
  • NM_001407644.1:c.*750A>G
  • NM_001407645.1:c.*750A>G
  • NM_001407646.1:c.*750A>G
  • NM_001407647.1:c.*750A>G
  • NM_001407648.1:c.*750A>G
  • NM_001407649.1:c.*750A>G
  • NM_001407652.1:c.*750A>G
  • NM_001407653.1:c.*750A>G
  • NM_001407654.1:c.*750A>G
  • NM_001407655.1:c.*750A>G
  • NM_001407656.1:c.*750A>G
  • NM_001407657.1:c.*750A>G
  • NM_001407658.1:c.*750A>G
  • NM_001407659.1:c.*750A>G
  • NM_001407660.1:c.*750A>G
  • NM_001407661.1:c.*750A>G
  • NM_001407662.1:c.*750A>G
  • NM_001407663.1:c.*750A>G
  • NM_001407664.1:c.*750A>G
  • NM_001407665.1:c.*750A>G
  • NM_001407666.1:c.*750A>G
  • NM_001407667.1:c.*750A>G
  • NM_001407668.1:c.*750A>G
  • NM_001407669.1:c.*750A>G
  • NM_001407670.1:c.*750A>G
  • NM_001407671.1:c.*750A>G
  • NM_001407672.1:c.*750A>G
  • NM_001407673.1:c.*750A>G
  • NM_001407674.1:c.*750A>G
  • NM_001407675.1:c.*750A>G
  • NM_001407676.1:c.*750A>G
  • NM_001407677.1:c.*750A>G
  • NM_001407678.1:c.*750A>G
  • NM_001407679.1:c.*750A>G
  • NM_001407680.1:c.*750A>G
  • NM_001407681.1:c.*750A>G
  • NM_001407682.1:c.*750A>G
  • NM_001407683.1:c.*750A>G
  • NM_001407684.1:c.*750A>G
  • NM_001407685.1:c.*750A>G
  • NM_001407686.1:c.*750A>G
  • NM_001407687.1:c.*750A>G
  • NM_001407688.1:c.*750A>G
  • NM_001407689.1:c.*750A>G
  • NM_001407690.1:c.*750A>G
  • NM_001407691.1:c.*750A>G
  • NM_001407692.1:c.*750A>G
  • NM_001407694.1:c.*750A>G
  • NM_001407695.1:c.*750A>G
  • NM_001407696.1:c.*750A>G
  • NM_001407697.1:c.*750A>G
  • NM_001407698.1:c.*750A>G
  • NM_001407724.1:c.*750A>G
  • NM_001407725.1:c.*750A>G
  • NM_001407726.1:c.*750A>G
  • NM_001407727.1:c.*750A>G
  • NM_001407728.1:c.*750A>G
  • NM_001407729.1:c.*750A>G
  • NM_001407730.1:c.*750A>G
  • NM_001407731.1:c.*750A>G
  • NM_001407732.1:c.*750A>G
  • NM_001407733.1:c.*750A>G
  • NM_001407734.1:c.*750A>G
  • NM_001407735.1:c.*750A>G
  • NM_001407736.1:c.*750A>G
  • NM_001407737.1:c.*750A>G
  • NM_001407738.1:c.*750A>G
  • NM_001407739.1:c.*750A>G
  • NM_001407740.1:c.*750A>G
  • NM_001407741.1:c.*750A>G
  • NM_001407742.1:c.*750A>G
  • NM_001407743.1:c.*750A>G
  • NM_001407744.1:c.*750A>G
  • NM_001407745.1:c.*750A>G
  • NM_001407746.1:c.*750A>G
  • NM_001407747.1:c.*750A>G
  • NM_001407748.1:c.*750A>G
  • NM_001407749.1:c.*750A>G
  • NM_001407750.1:c.*750A>G
  • NM_001407751.1:c.*750A>G
  • NM_001407752.1:c.*750A>G
  • NM_001407838.1:c.*750A>G
  • NM_001407839.1:c.*750A>G
  • NM_001407841.1:c.*750A>G
  • NM_001407842.1:c.*750A>G
  • NM_001407843.1:c.*750A>G
  • NM_001407844.1:c.*750A>G
  • NM_001407845.1:c.*750A>G
  • NM_001407846.1:c.*750A>G
  • NM_001407847.1:c.*750A>G
  • NM_001407848.1:c.*750A>G
  • NM_001407849.1:c.*750A>G
  • NM_001407850.1:c.*750A>G
  • NM_001407851.1:c.*750A>G
  • NM_001407852.1:c.*750A>G
  • NM_001407853.1:c.*750A>G
  • NM_001407854.1:c.*856A>G
  • NM_001407858.1:c.*856A>G
  • NM_001407859.1:c.*856A>G
  • NM_001407860.1:c.*856A>G
  • NM_001407861.1:c.*856A>G
  • NM_001407862.1:c.*750A>G
  • NM_001407863.1:c.*750A>G
  • NM_001407874.1:c.*750A>G
  • NM_001407875.1:c.*750A>G
  • NM_001407879.1:c.*750A>G
  • NM_001407881.1:c.*750A>G
  • NM_001407882.1:c.*750A>G
  • NM_001407884.1:c.*750A>G
  • NM_001407885.1:c.*750A>G
  • NM_001407886.1:c.*750A>G
  • NM_001407887.1:c.*750A>G
  • NM_001407889.1:c.*750A>G
  • NM_001407894.1:c.*750A>G
  • NM_001407895.1:c.*750A>G
  • NM_001407896.1:c.*750A>G
  • NM_001407897.1:c.*750A>G
  • NM_001407898.1:c.*750A>G
  • NM_001407899.1:c.*750A>G
  • NM_001407900.1:c.*750A>G
  • NM_001407902.1:c.*750A>G
  • NM_001407904.1:c.*750A>G
  • NM_001407906.1:c.*750A>G
  • NM_001407907.1:c.*750A>G
  • NM_001407908.1:c.*750A>G
  • NM_001407909.1:c.*750A>G
  • NM_001407910.1:c.*750A>G
  • NM_001407915.1:c.*750A>G
  • NM_001407916.1:c.*750A>G
  • NM_001407917.1:c.*750A>G
  • NM_001407918.1:c.*750A>G
  • NM_001407919.1:c.*750A>G
  • NM_001407920.1:c.*750A>G
  • NM_001407921.1:c.*750A>G
  • NM_001407922.1:c.*750A>G
  • NM_001407923.1:c.*750A>G
  • NM_001407924.1:c.*750A>G
  • NM_001407925.1:c.*750A>G
  • NM_001407926.1:c.*750A>G
  • NM_001407927.1:c.*750A>G
  • NM_001407928.1:c.*750A>G
  • NM_001407929.1:c.*750A>G
  • NM_001407930.1:c.*750A>G
  • NM_001407931.1:c.*750A>G
  • NM_001407932.1:c.*750A>G
  • NM_001407933.1:c.*750A>G
  • NM_001407934.1:c.*750A>G
  • NM_001407935.1:c.*750A>G
  • NM_001407936.1:c.*750A>G
  • NM_001407937.1:c.*856A>G
  • NM_001407938.1:c.*856A>G
  • NM_001407939.1:c.*856A>G
  • NM_001407940.1:c.*856A>G
  • NM_001407941.1:c.*856A>G
  • NM_001407942.1:c.*856A>G
  • NM_001407943.1:c.*856A>G
  • NM_001407944.1:c.*856A>G
  • NM_001407945.1:c.*856A>G
  • NM_001407946.1:c.*750A>G
  • NM_001407947.1:c.*750A>G
  • NM_001407948.1:c.*750A>G
  • NM_001407949.1:c.*750A>G
  • NM_001407950.1:c.*750A>G
  • NM_001407951.1:c.*750A>G
  • NM_001407952.1:c.*750A>G
  • NM_001407953.1:c.*750A>G
  • NM_001407954.1:c.*750A>G
  • NM_001407955.1:c.*750A>G
  • NM_001407956.1:c.*750A>G
  • NM_001407957.1:c.*750A>G
  • NM_001407958.1:c.*750A>G
  • NM_001407959.1:c.*750A>G
  • NM_001407960.1:c.*750A>G
  • NM_001407962.1:c.*750A>G
  • NM_001407963.1:c.*750A>G
  • NM_001407964.1:c.*750A>G
  • NM_001407965.1:c.*750A>G
  • NM_001407966.1:c.*750A>G
  • NM_001407967.1:c.*750A>G
  • NM_001407968.1:c.*750A>G
  • NM_001407969.1:c.*750A>G
  • NM_001407970.1:c.*750A>G
  • NM_001407971.1:c.*750A>G
  • NM_001407972.1:c.*750A>G
  • NM_001407973.1:c.*750A>G
  • NM_001407974.1:c.*750A>G
  • NM_001407975.1:c.*750A>G
  • NM_001407976.1:c.*750A>G
  • NM_001407977.1:c.*750A>G
  • NM_001407978.1:c.*750A>G
  • NM_001407979.1:c.*750A>G
  • NM_001407980.1:c.*750A>G
  • NM_001407981.1:c.*750A>G
  • NM_001407982.1:c.*750A>G
  • NM_001407983.1:c.*750A>G
  • NM_001407984.1:c.*750A>G
  • NM_001407985.1:c.*750A>G
  • NM_001407986.1:c.*750A>G
  • NM_001407990.1:c.*750A>G
  • NM_001407991.1:c.*750A>G
  • NM_001407992.1:c.*750A>G
  • NM_001407993.1:c.*750A>G
  • NM_001408392.1:c.*750A>G
  • NM_001408396.1:c.*750A>G
  • NM_001408397.1:c.*750A>G
  • NM_001408398.1:c.*750A>G
  • NM_001408399.1:c.*750A>G
  • NM_001408400.1:c.*750A>G
  • NM_001408401.1:c.*750A>G
  • NM_001408402.1:c.*750A>G
  • NM_001408403.1:c.*750A>G
  • NM_001408404.1:c.*750A>G
  • NM_001408406.1:c.*750A>G
  • NM_001408407.1:c.*750A>G
  • NM_001408408.1:c.*750A>G
  • NM_001408409.1:c.*750A>G
  • NM_001408410.1:c.*750A>G
  • NM_001408411.1:c.*750A>G
  • NM_001408412.1:c.*750A>G
  • NM_001408413.1:c.*750A>G
  • NM_001408414.1:c.*750A>G
  • NM_001408415.1:c.*750A>G
  • NM_001408416.1:c.*750A>G
  • NM_001408418.1:c.*750A>G
  • NM_001408419.1:c.*750A>G
  • NM_001408420.1:c.*750A>G
  • NM_001408421.1:c.*750A>G
  • NM_001408422.1:c.*750A>G
  • NM_001408423.1:c.*750A>G
  • NM_001408424.1:c.*750A>G
  • NM_001408425.1:c.*750A>G
  • NM_001408426.1:c.*750A>G
  • NM_001408427.1:c.*750A>G
  • NM_001408428.1:c.*750A>G
  • NM_001408429.1:c.*750A>G
  • NM_001408430.1:c.*750A>G
  • NM_001408431.1:c.*750A>G
  • NM_001408432.1:c.*750A>G
  • NM_001408433.1:c.*750A>G
  • NM_001408434.1:c.*750A>G
  • NM_001408435.1:c.*750A>G
  • NM_001408436.1:c.*750A>G
  • NM_001408437.1:c.*750A>G
  • NM_001408438.1:c.*750A>G
  • NM_001408439.1:c.*750A>G
  • NM_001408440.1:c.*750A>G
  • NM_001408441.1:c.*750A>G
  • NM_001408442.1:c.*750A>G
  • NM_001408443.1:c.*750A>G
  • NM_001408444.1:c.*750A>G
  • NM_001408445.1:c.*750A>G
  • NM_001408446.1:c.*750A>G
  • NM_001408447.1:c.*750A>G
  • NM_001408448.1:c.*750A>G
  • NM_001408450.1:c.*750A>G
  • NM_001408451.1:c.*750A>G
  • NM_001408452.1:c.*750A>G
  • NM_001408453.1:c.*750A>G
  • NM_001408454.1:c.*750A>G
  • NM_001408455.1:c.*750A>G
  • NM_001408456.1:c.*750A>G
  • NM_001408457.1:c.*750A>G
  • NM_001408458.1:c.*750A>G
  • NM_001408459.1:c.*750A>G
  • NM_001408460.1:c.*750A>G
  • NM_001408461.1:c.*750A>G
  • NM_001408462.1:c.*750A>G
  • NM_001408463.1:c.*750A>G
  • NM_001408464.1:c.*750A>G
  • NM_001408465.1:c.*750A>G
  • NM_001408466.1:c.*750A>G
  • NM_001408467.1:c.*750A>G
  • NM_001408468.1:c.*750A>G
  • NM_001408469.1:c.*750A>G
  • NM_001408470.1:c.*750A>G
  • NM_001408472.1:c.*856A>G
  • NM_001408473.1:c.*856A>G
  • NM_001408474.1:c.*750A>G
  • NM_001408475.1:c.*750A>G
  • NM_001408476.1:c.*750A>G
  • NM_001408478.1:c.*750A>G
  • NM_001408479.1:c.*750A>G
  • NM_001408480.1:c.*750A>G
  • NM_001408481.1:c.*750A>G
  • NM_001408482.1:c.*750A>G
  • NM_001408483.1:c.*750A>G
  • NM_001408484.1:c.*750A>G
  • NM_001408485.1:c.*750A>G
  • NM_001408489.1:c.*750A>G
  • NM_001408490.1:c.*750A>G
  • NM_001408491.1:c.*750A>G
  • NM_001408492.1:c.*750A>G
  • NM_001408493.1:c.*750A>G
  • NM_001408494.1:c.*750A>G
  • NM_001408495.1:c.*750A>G
  • NM_001408496.1:c.*750A>G
  • NM_001408497.1:c.*750A>G
  • NM_001408498.1:c.*750A>G
  • NM_001408499.1:c.*750A>G
  • NM_001408500.1:c.*750A>G
  • NM_001408501.1:c.*750A>G
  • NM_001408502.1:c.*750A>G
  • NM_001408503.1:c.*750A>G
  • NM_001408504.1:c.*750A>G
  • NM_001408505.1:c.*750A>G
  • NM_001408506.1:c.*750A>G
  • NM_001408507.1:c.*750A>G
  • NM_001408508.1:c.*750A>G
  • NM_001408509.1:c.*750A>G
  • NM_001408510.1:c.*750A>G
  • NM_001408511.1:c.*750A>G
  • NM_001408512.1:c.*750A>G
  • NM_001408513.1:c.*750A>G
  • NM_001408514.1:c.*750A>G
  • NM_007294.4:c.*750A>GMANE SELECT
  • NM_007297.4:c.*750A>G
  • NM_007298.4:c.*750A>G
  • NM_007299.4:c.*856A>G
  • NM_007300.4:c.*750A>G
  • NM_007304.2:c.*750A>G
  • LRG_292t1:c.*750A>G
  • LRG_292:g.173056A>G
  • NC_000017.10:g.41196945T>C
  • NM_007294.3:c.*750A>G
  • NM_007298.3:c.*750A>G
  • NR_027676.2:n.6519A>G
Links:
dbSNP: rs138782023
NCBI 1000 Genomes Browser:
rs138782023
Molecular consequence:
  • NM_007294.4:c.*750A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007297.4:c.*750A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007299.4:c.*856A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007300.4:c.*750A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_027676.2:n.6519A>G - 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 cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000403043Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Mar 26, 2018) 		germlineclinical testing

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

Citation Link,

SCV001140459Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Two novel variants in the 3'UTR of the BRCA1 gene in familial breast and/or ovarian cancer.

Lheureux S, Lambert B, Krieger S, Legros A, Vaur D, Denoyelle C, Berthet P, Poulain L, Hardouin A.

Breast Cancer Res Treat. 2011 Feb;125(3):885-91. doi: 10.1007/s10549-010-1165-8. Epub 2010 Sep 17.

PubMed [citation]
PMID:
20848184

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000403043.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

From Mendelics, SCV001140459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024