ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4450T>A (p.Ser1484Thr)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(2); Benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4450T>A (p.Ser1484Thr)
Variation ID: 55201 Accession: VCV000055201.10
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43076522 (GRCh38) [ NCBI UCSC ] 17: 41228539 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 May 1, 2024 Feb 9, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4450T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1484Thr missense NM_001407571.1:c.4237T>A NP_001394500.1:p.Ser1413Thr missense NM_001407581.1:c.4516T>A NP_001394510.1:p.Ser1506Thr missense NM_001407582.1:c.4516T>A NP_001394511.1:p.Ser1506Thr missense NM_001407583.1:c.4513T>A NP_001394512.1:p.Ser1505Thr missense NM_001407585.1:c.4513T>A NP_001394514.1:p.Ser1505Thr missense NM_001407587.1:c.4513T>A NP_001394516.1:p.Ser1505Thr missense NM_001407590.1:c.4510T>A NP_001394519.1:p.Ser1504Thr missense NM_001407591.1:c.4510T>A NP_001394520.1:p.Ser1504Thr missense NM_001407593.1:c.4450T>A NP_001394522.1:p.Ser1484Thr missense NM_001407594.1:c.4450T>A NP_001394523.1:p.Ser1484Thr missense NM_001407596.1:c.4450T>A NP_001394525.1:p.Ser1484Thr missense NM_001407597.1:c.4450T>A NP_001394526.1:p.Ser1484Thr missense NM_001407598.1:c.4450T>A NP_001394527.1:p.Ser1484Thr missense NM_001407602.1:c.4450T>A NP_001394531.1:p.Ser1484Thr missense NM_001407603.1:c.4450T>A NP_001394532.1:p.Ser1484Thr missense NM_001407605.1:c.4450T>A NP_001394534.1:p.Ser1484Thr missense NM_001407610.1:c.4447T>A NP_001394539.1:p.Ser1483Thr missense NM_001407611.1:c.4447T>A NP_001394540.1:p.Ser1483Thr missense NM_001407612.1:c.4447T>A NP_001394541.1:p.Ser1483Thr missense NM_001407613.1:c.4447T>A NP_001394542.1:p.Ser1483Thr missense NM_001407614.1:c.4447T>A NP_001394543.1:p.Ser1483Thr missense NM_001407615.1:c.4447T>A NP_001394544.1:p.Ser1483Thr missense NM_001407616.1:c.4447T>A NP_001394545.1:p.Ser1483Thr missense NM_001407617.1:c.4447T>A NP_001394546.1:p.Ser1483Thr missense NM_001407618.1:c.4447T>A NP_001394547.1:p.Ser1483Thr missense NM_001407619.1:c.4447T>A NP_001394548.1:p.Ser1483Thr missense NM_001407620.1:c.4447T>A NP_001394549.1:p.Ser1483Thr missense NM_001407621.1:c.4447T>A NP_001394550.1:p.Ser1483Thr missense NM_001407622.1:c.4447T>A NP_001394551.1:p.Ser1483Thr missense NM_001407623.1:c.4447T>A NP_001394552.1:p.Ser1483Thr missense NM_001407624.1:c.4447T>A NP_001394553.1:p.Ser1483Thr missense NM_001407625.1:c.4447T>A NP_001394554.1:p.Ser1483Thr missense NM_001407626.1:c.4447T>A NP_001394555.1:p.Ser1483Thr missense NM_001407627.1:c.4444T>A NP_001394556.1:p.Ser1482Thr missense NM_001407628.1:c.4444T>A NP_001394557.1:p.Ser1482Thr missense NM_001407629.1:c.4444T>A NP_001394558.1:p.Ser1482Thr missense NM_001407630.1:c.4444T>A NP_001394559.1:p.Ser1482Thr missense NM_001407631.1:c.4444T>A NP_001394560.1:p.Ser1482Thr missense NM_001407632.1:c.4444T>A NP_001394561.1:p.Ser1482Thr missense NM_001407633.1:c.4444T>A NP_001394562.1:p.Ser1482Thr missense NM_001407634.1:c.4444T>A NP_001394563.1:p.Ser1482Thr missense NM_001407635.1:c.4444T>A NP_001394564.1:p.Ser1482Thr missense NM_001407636.1:c.4444T>A NP_001394565.1:p.Ser1482Thr missense NM_001407637.1:c.4444T>A NP_001394566.1:p.Ser1482Thr missense NM_001407638.1:c.4444T>A NP_001394567.1:p.Ser1482Thr missense NM_001407639.1:c.4444T>A NP_001394568.1:p.Ser1482Thr missense NM_001407640.1:c.4444T>A NP_001394569.1:p.Ser1482Thr missense NM_001407641.1:c.4444T>A NP_001394570.1:p.Ser1482Thr missense NM_001407642.1:c.4444T>A NP_001394571.1:p.Ser1482Thr missense NM_001407644.1:c.4441T>A NP_001394573.1:p.Ser1481Thr missense NM_001407645.1:c.4441T>A NP_001394574.1:p.Ser1481Thr missense NM_001407646.1:c.4438T>A NP_001394575.1:p.Ser1480Thr missense NM_001407647.1:c.4435T>A NP_001394576.1:p.Ser1479Thr missense NM_001407648.1:c.4393T>A NP_001394577.1:p.Ser1465Thr missense NM_001407649.1:c.4390T>A NP_001394578.1:p.Ser1464Thr missense NM_001407652.1:c.4450T>A NP_001394581.1:p.Ser1484Thr missense NM_001407653.1:c.4372T>A NP_001394582.1:p.Ser1458Thr missense NM_001407654.1:c.4372T>A NP_001394583.1:p.Ser1458Thr missense NM_001407655.1:c.4372T>A NP_001394584.1:p.Ser1458Thr missense NM_001407656.1:c.4369T>A NP_001394585.1:p.Ser1457Thr missense NM_001407657.1:c.4369T>A NP_001394586.1:p.Ser1457Thr missense NM_001407658.1:c.4369T>A NP_001394587.1:p.Ser1457Thr missense NM_001407659.1:c.4366T>A NP_001394588.1:p.Ser1456Thr missense NM_001407660.1:c.4366T>A NP_001394589.1:p.Ser1456Thr missense NM_001407661.1:c.4366T>A NP_001394590.1:p.Ser1456Thr missense NM_001407662.1:c.4366T>A NP_001394591.1:p.Ser1456Thr missense NM_001407663.1:c.4366T>A NP_001394592.1:p.Ser1456Thr missense NM_001407664.1:c.4327T>A NP_001394593.1:p.Ser1443Thr missense NM_001407665.1:c.4327T>A NP_001394594.1:p.Ser1443Thr missense NM_001407666.1:c.4327T>A NP_001394595.1:p.Ser1443Thr missense NM_001407667.1:c.4327T>A NP_001394596.1:p.Ser1443Thr missense NM_001407668.1:c.4327T>A NP_001394597.1:p.Ser1443Thr missense NM_001407669.1:c.4327T>A NP_001394598.1:p.Ser1443Thr missense NM_001407670.1:c.4324T>A NP_001394599.1:p.Ser1442Thr missense NM_001407671.1:c.4324T>A NP_001394600.1:p.Ser1442Thr missense NM_001407672.1:c.4324T>A NP_001394601.1:p.Ser1442Thr missense NM_001407673.1:c.4324T>A NP_001394602.1:p.Ser1442Thr missense NM_001407674.1:c.4324T>A NP_001394603.1:p.Ser1442Thr missense NM_001407675.1:c.4324T>A NP_001394604.1:p.Ser1442Thr missense NM_001407676.1:c.4324T>A NP_001394605.1:p.Ser1442Thr missense NM_001407677.1:c.4324T>A NP_001394606.1:p.Ser1442Thr missense NM_001407678.1:c.4324T>A NP_001394607.1:p.Ser1442Thr missense NM_001407679.1:c.4324T>A NP_001394608.1:p.Ser1442Thr missense NM_001407680.1:c.4324T>A NP_001394609.1:p.Ser1442Thr missense NM_001407681.1:c.4321T>A NP_001394610.1:p.Ser1441Thr missense NM_001407682.1:c.4321T>A NP_001394611.1:p.Ser1441Thr missense NM_001407683.1:c.4321T>A NP_001394612.1:p.Ser1441Thr missense NM_001407684.1:c.4450T>A NP_001394613.1:p.Ser1484Thr missense NM_001407685.1:c.4321T>A NP_001394614.1:p.Ser1441Thr missense NM_001407686.1:c.4321T>A NP_001394615.1:p.Ser1441Thr missense NM_001407687.1:c.4321T>A NP_001394616.1:p.Ser1441Thr missense NM_001407688.1:c.4321T>A NP_001394617.1:p.Ser1441Thr missense NM_001407689.1:c.4321T>A NP_001394618.1:p.Ser1441Thr missense NM_001407690.1:c.4318T>A NP_001394619.1:p.Ser1440Thr missense NM_001407691.1:c.4318T>A NP_001394620.1:p.Ser1440Thr missense NM_001407692.1:c.4309T>A NP_001394621.1:p.Ser1437Thr missense NM_001407694.1:c.4309T>A NP_001394623.1:p.Ser1437Thr missense NM_001407695.1:c.4309T>A NP_001394624.1:p.Ser1437Thr missense NM_001407696.1:c.4309T>A NP_001394625.1:p.Ser1437Thr missense NM_001407697.1:c.4309T>A NP_001394626.1:p.Ser1437Thr missense NM_001407698.1:c.4309T>A NP_001394627.1:p.Ser1437Thr missense NM_001407724.1:c.4309T>A NP_001394653.1:p.Ser1437Thr missense NM_001407725.1:c.4309T>A NP_001394654.1:p.Ser1437Thr missense NM_001407726.1:c.4309T>A NP_001394655.1:p.Ser1437Thr missense NM_001407727.1:c.4309T>A NP_001394656.1:p.Ser1437Thr missense NM_001407728.1:c.4309T>A NP_001394657.1:p.Ser1437Thr missense NM_001407729.1:c.4309T>A NP_001394658.1:p.Ser1437Thr missense NM_001407730.1:c.4309T>A NP_001394659.1:p.Ser1437Thr missense NM_001407731.1:c.4309T>A NP_001394660.1:p.Ser1437Thr missense NM_001407732.1:c.4306T>A NP_001394661.1:p.Ser1436Thr missense NM_001407733.1:c.4306T>A NP_001394662.1:p.Ser1436Thr missense NM_001407734.1:c.4306T>A NP_001394663.1:p.Ser1436Thr missense NM_001407735.1:c.4306T>A NP_001394664.1:p.Ser1436Thr missense NM_001407736.1:c.4306T>A NP_001394665.1:p.Ser1436Thr missense NM_001407737.1:c.4306T>A NP_001394666.1:p.Ser1436Thr missense NM_001407738.1:c.4306T>A NP_001394667.1:p.Ser1436Thr missense NM_001407739.1:c.4306T>A NP_001394668.1:p.Ser1436Thr missense NM_001407740.1:c.4306T>A NP_001394669.1:p.Ser1436Thr missense NM_001407741.1:c.4306T>A NP_001394670.1:p.Ser1436Thr missense NM_001407742.1:c.4306T>A NP_001394671.1:p.Ser1436Thr missense NM_001407743.1:c.4306T>A NP_001394672.1:p.Ser1436Thr missense NM_001407744.1:c.4306T>A NP_001394673.1:p.Ser1436Thr missense NM_001407745.1:c.4306T>A NP_001394674.1:p.Ser1436Thr missense NM_001407746.1:c.4306T>A NP_001394675.1:p.Ser1436Thr missense NM_001407747.1:c.4306T>A NP_001394676.1:p.Ser1436Thr missense NM_001407748.1:c.4306T>A NP_001394677.1:p.Ser1436Thr missense NM_001407749.1:c.4306T>A NP_001394678.1:p.Ser1436Thr missense NM_001407750.1:c.4306T>A NP_001394679.1:p.Ser1436Thr missense NM_001407751.1:c.4306T>A NP_001394680.1:p.Ser1436Thr missense NM_001407752.1:c.4306T>A NP_001394681.1:p.Ser1436Thr missense NM_001407838.1:c.4303T>A NP_001394767.1:p.Ser1435Thr missense NM_001407839.1:c.4303T>A NP_001394768.1:p.Ser1435Thr missense NM_001407841.1:c.4303T>A NP_001394770.1:p.Ser1435Thr missense NM_001407842.1:c.4303T>A NP_001394771.1:p.Ser1435Thr missense NM_001407843.1:c.4303T>A NP_001394772.1:p.Ser1435Thr missense NM_001407844.1:c.4303T>A NP_001394773.1:p.Ser1435Thr missense NM_001407845.1:c.4303T>A NP_001394774.1:p.Ser1435Thr missense NM_001407846.1:c.4303T>A NP_001394775.1:p.Ser1435Thr missense NM_001407847.1:c.4303T>A NP_001394776.1:p.Ser1435Thr missense NM_001407848.1:c.4303T>A NP_001394777.1:p.Ser1435Thr missense NM_001407849.1:c.4303T>A NP_001394778.1:p.Ser1435Thr missense NM_001407850.1:c.4303T>A NP_001394779.1:p.Ser1435Thr missense NM_001407851.1:c.4303T>A NP_001394780.1:p.Ser1435Thr missense NM_001407852.1:c.4303T>A NP_001394781.1:p.Ser1435Thr missense NM_001407853.1:c.4303T>A NP_001394782.1:p.Ser1435Thr missense NM_001407854.1:c.4450T>A NP_001394783.1:p.Ser1484Thr missense NM_001407858.1:c.4447T>A NP_001394787.1:p.Ser1483Thr missense NM_001407859.1:c.4447T>A NP_001394788.1:p.Ser1483Thr missense NM_001407860.1:c.4447T>A NP_001394789.1:p.Ser1483Thr missense NM_001407861.1:c.4444T>A NP_001394790.1:p.Ser1482Thr missense NM_001407862.1:c.4249T>A NP_001394791.1:p.Ser1417Thr missense NM_001407863.1:c.4324T>A NP_001394792.1:p.Ser1442Thr missense NM_001407874.1:c.4243T>A NP_001394803.1:p.Ser1415Thr missense NM_001407875.1:c.4243T>A NP_001394804.1:p.Ser1415Thr missense NM_001407879.1:c.4240T>A NP_001394808.1:p.Ser1414Thr missense NM_001407881.1:c.4240T>A NP_001394810.1:p.Ser1414Thr missense NM_001407882.1:c.4240T>A NP_001394811.1:p.Ser1414Thr missense NM_001407884.1:c.4240T>A NP_001394813.1:p.Ser1414Thr missense NM_001407885.1:c.4240T>A NP_001394814.1:p.Ser1414Thr missense NM_001407886.1:c.4240T>A NP_001394815.1:p.Ser1414Thr missense NM_001407887.1:c.4240T>A NP_001394816.1:p.Ser1414Thr missense NM_001407889.1:c.4240T>A NP_001394818.1:p.Ser1414Thr missense NM_001407894.1:c.4237T>A NP_001394823.1:p.Ser1413Thr missense NM_001407895.1:c.4237T>A NP_001394824.1:p.Ser1413Thr missense NM_001407896.1:c.4237T>A NP_001394825.1:p.Ser1413Thr missense NM_001407897.1:c.4237T>A NP_001394826.1:p.Ser1413Thr missense NM_001407898.1:c.4237T>A NP_001394827.1:p.Ser1413Thr missense NM_001407899.1:c.4237T>A NP_001394828.1:p.Ser1413Thr missense NM_001407900.1:c.4237T>A NP_001394829.1:p.Ser1413Thr missense NM_001407902.1:c.4237T>A NP_001394831.1:p.Ser1413Thr missense NM_001407904.1:c.4237T>A NP_001394833.1:p.Ser1413Thr missense NM_001407906.1:c.4237T>A NP_001394835.1:p.Ser1413Thr missense NM_001407907.1:c.4237T>A NP_001394836.1:p.Ser1413Thr missense NM_001407908.1:c.4237T>A NP_001394837.1:p.Ser1413Thr missense NM_001407909.1:c.4237T>A NP_001394838.1:p.Ser1413Thr missense NM_001407910.1:c.4237T>A NP_001394839.1:p.Ser1413Thr missense NM_001407915.1:c.4234T>A NP_001394844.1:p.Ser1412Thr missense NM_001407916.1:c.4234T>A NP_001394845.1:p.Ser1412Thr missense NM_001407917.1:c.4234T>A NP_001394846.1:p.Ser1412Thr missense NM_001407918.1:c.4234T>A NP_001394847.1:p.Ser1412Thr missense NM_001407919.1:c.4327T>A NP_001394848.1:p.Ser1443Thr missense NM_001407920.1:c.4186T>A NP_001394849.1:p.Ser1396Thr missense NM_001407921.1:c.4186T>A NP_001394850.1:p.Ser1396Thr missense NM_001407922.1:c.4186T>A NP_001394851.1:p.Ser1396Thr missense NM_001407923.1:c.4186T>A NP_001394852.1:p.Ser1396Thr missense NM_001407924.1:c.4186T>A NP_001394853.1:p.Ser1396Thr missense NM_001407925.1:c.4186T>A NP_001394854.1:p.Ser1396Thr missense NM_001407926.1:c.4186T>A NP_001394855.1:p.Ser1396Thr missense NM_001407927.1:c.4183T>A NP_001394856.1:p.Ser1395Thr missense NM_001407928.1:c.4183T>A NP_001394857.1:p.Ser1395Thr missense NM_001407929.1:c.4183T>A NP_001394858.1:p.Ser1395Thr missense NM_001407930.1:c.4183T>A NP_001394859.1:p.Ser1395Thr missense NM_001407931.1:c.4183T>A NP_001394860.1:p.Ser1395Thr missense NM_001407932.1:c.4183T>A NP_001394861.1:p.Ser1395Thr missense NM_001407933.1:c.4183T>A NP_001394862.1:p.Ser1395Thr missense NM_001407934.1:c.4180T>A NP_001394863.1:p.Ser1394Thr missense NM_001407935.1:c.4180T>A NP_001394864.1:p.Ser1394Thr missense NM_001407936.1:c.4180T>A NP_001394865.1:p.Ser1394Thr missense NM_001407937.1:c.4327T>A NP_001394866.1:p.Ser1443Thr missense NM_001407938.1:c.4327T>A NP_001394867.1:p.Ser1443Thr missense NM_001407939.1:c.4324T>A NP_001394868.1:p.Ser1442Thr missense NM_001407940.1:c.4324T>A NP_001394869.1:p.Ser1442Thr missense NM_001407941.1:c.4321T>A NP_001394870.1:p.Ser1441Thr missense NM_001407942.1:c.4309T>A NP_001394871.1:p.Ser1437Thr missense NM_001407943.1:c.4306T>A NP_001394872.1:p.Ser1436Thr missense NM_001407944.1:c.4306T>A NP_001394873.1:p.Ser1436Thr missense NM_001407945.1:c.4306T>A NP_001394874.1:p.Ser1436Thr missense NM_001407946.1:c.4117T>A NP_001394875.1:p.Ser1373Thr missense NM_001407947.1:c.4117T>A NP_001394876.1:p.Ser1373Thr missense NM_001407948.1:c.4117T>A NP_001394877.1:p.Ser1373Thr missense NM_001407949.1:c.4117T>A NP_001394878.1:p.Ser1373Thr missense NM_001407950.1:c.4114T>A NP_001394879.1:p.Ser1372Thr missense NM_001407951.1:c.4114T>A NP_001394880.1:p.Ser1372Thr missense NM_001407952.1:c.4114T>A NP_001394881.1:p.Ser1372Thr missense NM_001407953.1:c.4114T>A NP_001394882.1:p.Ser1372Thr missense NM_001407954.1:c.4114T>A NP_001394883.1:p.Ser1372Thr missense NM_001407955.1:c.4114T>A NP_001394884.1:p.Ser1372Thr missense NM_001407956.1:c.4111T>A NP_001394885.1:p.Ser1371Thr missense NM_001407957.1:c.4111T>A NP_001394886.1:p.Ser1371Thr missense NM_001407958.1:c.4111T>A NP_001394887.1:p.Ser1371Thr missense NM_001407959.1:c.4069T>A NP_001394888.1:p.Ser1357Thr missense NM_001407960.1:c.4066T>A NP_001394889.1:p.Ser1356Thr missense NM_001407962.1:c.4066T>A NP_001394891.1:p.Ser1356Thr missense NM_001407963.1:c.4063T>A NP_001394892.1:p.Ser1355Thr missense NM_001407965.1:c.3943T>A NP_001394894.1:p.Ser1315Thr missense NM_001407966.1:c.3562T>A NP_001394895.1:p.Ser1188Thr missense NM_001407967.1:c.3559T>A NP_001394896.1:p.Ser1187Thr missense NM_001407968.1:c.1846T>A NP_001394897.1:p.Ser616Thr missense NM_001407969.1:c.1843T>A NP_001394898.1:p.Ser615Thr missense NM_001407970.1:c.1207T>A NP_001394899.1:p.Ser403Thr missense NM_001407971.1:c.1207T>A NP_001394900.1:p.Ser403Thr missense NM_001407972.1:c.1204T>A NP_001394901.1:p.Ser402Thr missense NM_001407973.1:c.1141T>A NP_001394902.1:p.Ser381Thr missense NM_001407974.1:c.1141T>A NP_001394903.1:p.Ser381Thr missense NM_001407975.1:c.1141T>A NP_001394904.1:p.Ser381Thr missense NM_001407976.1:c.1141T>A NP_001394905.1:p.Ser381Thr missense NM_001407977.1:c.1141T>A NP_001394906.1:p.Ser381Thr missense NM_001407978.1:c.1141T>A NP_001394907.1:p.Ser381Thr missense NM_001407979.1:c.1138T>A NP_001394908.1:p.Ser380Thr missense NM_001407980.1:c.1138T>A NP_001394909.1:p.Ser380Thr missense NM_001407981.1:c.1138T>A NP_001394910.1:p.Ser380Thr missense NM_001407982.1:c.1138T>A NP_001394911.1:p.Ser380Thr missense NM_001407983.1:c.1138T>A NP_001394912.1:p.Ser380Thr missense NM_001407984.1:c.1138T>A NP_001394913.1:p.Ser380Thr missense NM_001407985.1:c.1138T>A NP_001394914.1:p.Ser380Thr missense NM_001407986.1:c.1138T>A NP_001394915.1:p.Ser380Thr missense NM_001407990.1:c.1138T>A NP_001394919.1:p.Ser380Thr missense NM_001407991.1:c.1138T>A NP_001394920.1:p.Ser380Thr missense NM_001407992.1:c.1138T>A NP_001394921.1:p.Ser380Thr missense NM_001407993.1:c.1138T>A NP_001394922.1:p.Ser380Thr missense NM_001408392.1:c.1135T>A NP_001395321.1:p.Ser379Thr missense NM_001408396.1:c.1135T>A NP_001395325.1:p.Ser379Thr missense NM_001408397.1:c.1135T>A NP_001395326.1:p.Ser379Thr missense NM_001408398.1:c.1135T>A NP_001395327.1:p.Ser379Thr missense NM_001408399.1:c.1135T>A NP_001395328.1:p.Ser379Thr missense NM_001408400.1:c.1135T>A NP_001395329.1:p.Ser379Thr missense NM_001408401.1:c.1135T>A NP_001395330.1:p.Ser379Thr missense NM_001408402.1:c.1135T>A NP_001395331.1:p.Ser379Thr missense NM_001408403.1:c.1135T>A NP_001395332.1:p.Ser379Thr missense NM_001408404.1:c.1135T>A NP_001395333.1:p.Ser379Thr missense NM_001408406.1:c.1132T>A NP_001395335.1:p.Ser378Thr missense NM_001408407.1:c.1132T>A NP_001395336.1:p.Ser378Thr missense NM_001408408.1:c.1132T>A NP_001395337.1:p.Ser378Thr missense NM_001408409.1:c.1129T>A NP_001395338.1:p.Ser377Thr missense NM_001408410.1:c.1066T>A NP_001395339.1:p.Ser356Thr missense NM_001408411.1:c.1063T>A NP_001395340.1:p.Ser355Thr missense NM_001408412.1:c.1060T>A NP_001395341.1:p.Ser354Thr missense NM_001408413.1:c.1060T>A NP_001395342.1:p.Ser354Thr missense NM_001408414.1:c.1060T>A NP_001395343.1:p.Ser354Thr missense NM_001408415.1:c.1060T>A NP_001395344.1:p.Ser354Thr missense NM_001408416.1:c.1060T>A NP_001395345.1:p.Ser354Thr missense NM_001408418.1:c.1024T>A NP_001395347.1:p.Ser342Thr missense NM_001408419.1:c.1024T>A NP_001395348.1:p.Ser342Thr missense NM_001408420.1:c.1024T>A NP_001395349.1:p.Ser342Thr missense NM_001408421.1:c.1021T>A NP_001395350.1:p.Ser341Thr missense NM_001408422.1:c.1021T>A NP_001395351.1:p.Ser341Thr missense NM_001408423.1:c.1021T>A NP_001395352.1:p.Ser341Thr missense NM_001408424.1:c.1021T>A NP_001395353.1:p.Ser341Thr missense NM_001408425.1:c.1018T>A NP_001395354.1:p.Ser340Thr missense NM_001408426.1:c.1018T>A NP_001395355.1:p.Ser340Thr missense NM_001408427.1:c.1018T>A NP_001395356.1:p.Ser340Thr missense NM_001408428.1:c.1018T>A NP_001395357.1:p.Ser340Thr missense NM_001408429.1:c.1018T>A NP_001395358.1:p.Ser340Thr missense NM_001408430.1:c.1018T>A NP_001395359.1:p.Ser340Thr missense NM_001408431.1:c.1018T>A NP_001395360.1:p.Ser340Thr missense NM_001408432.1:c.1015T>A NP_001395361.1:p.Ser339Thr missense NM_001408433.1:c.1015T>A NP_001395362.1:p.Ser339Thr missense NM_001408434.1:c.1015T>A NP_001395363.1:p.Ser339Thr missense NM_001408435.1:c.1015T>A NP_001395364.1:p.Ser339Thr missense NM_001408436.1:c.1015T>A NP_001395365.1:p.Ser339Thr missense NM_001408437.1:c.1015T>A NP_001395366.1:p.Ser339Thr missense NM_001408438.1:c.1015T>A NP_001395367.1:p.Ser339Thr missense NM_001408439.1:c.1015T>A NP_001395368.1:p.Ser339Thr missense NM_001408440.1:c.1015T>A NP_001395369.1:p.Ser339Thr missense NM_001408441.1:c.1015T>A NP_001395370.1:p.Ser339Thr missense NM_001408442.1:c.1015T>A NP_001395371.1:p.Ser339Thr missense NM_001408443.1:c.1015T>A NP_001395372.1:p.Ser339Thr missense NM_001408444.1:c.1015T>A NP_001395373.1:p.Ser339Thr missense NM_001408445.1:c.1012T>A NP_001395374.1:p.Ser338Thr missense NM_001408446.1:c.1012T>A NP_001395375.1:p.Ser338Thr missense NM_001408447.1:c.1012T>A NP_001395376.1:p.Ser338Thr missense NM_001408448.1:c.1012T>A NP_001395377.1:p.Ser338Thr missense NM_001408450.1:c.1012T>A NP_001395379.1:p.Ser338Thr missense NM_001408451.1:c.1006T>A NP_001395380.1:p.Ser336Thr missense NM_001408452.1:c.1000T>A NP_001395381.1:p.Ser334Thr missense NM_001408453.1:c.1000T>A NP_001395382.1:p.Ser334Thr missense NM_001408454.1:c.1000T>A NP_001395383.1:p.Ser334Thr missense NM_001408455.1:c.1000T>A NP_001395384.1:p.Ser334Thr missense NM_001408456.1:c.1000T>A NP_001395385.1:p.Ser334Thr missense NM_001408457.1:c.1000T>A NP_001395386.1:p.Ser334Thr missense NM_001408458.1:c.997T>A NP_001395387.1:p.Ser333Thr missense NM_001408459.1:c.997T>A NP_001395388.1:p.Ser333Thr missense NM_001408460.1:c.997T>A NP_001395389.1:p.Ser333Thr missense NM_001408461.1:c.997T>A NP_001395390.1:p.Ser333Thr missense NM_001408462.1:c.997T>A NP_001395391.1:p.Ser333Thr missense NM_001408463.1:c.997T>A NP_001395392.1:p.Ser333Thr missense NM_001408464.1:c.997T>A NP_001395393.1:p.Ser333Thr missense NM_001408465.1:c.997T>A NP_001395394.1:p.Ser333Thr missense NM_001408466.1:c.997T>A NP_001395395.1:p.Ser333Thr missense NM_001408467.1:c.997T>A NP_001395396.1:p.Ser333Thr missense NM_001408468.1:c.994T>A NP_001395397.1:p.Ser332Thr missense NM_001408469.1:c.994T>A NP_001395398.1:p.Ser332Thr missense NM_001408470.1:c.994T>A NP_001395399.1:p.Ser332Thr missense NM_001408472.1:c.1138T>A NP_001395401.1:p.Ser380Thr missense NM_001408473.1:c.1135T>A NP_001395402.1:p.Ser379Thr missense NM_001408474.1:c.940T>A NP_001395403.1:p.Ser314Thr missense NM_001408475.1:c.937T>A NP_001395404.1:p.Ser313Thr missense NM_001408476.1:c.937T>A NP_001395405.1:p.Ser313Thr missense NM_001408478.1:c.931T>A NP_001395407.1:p.Ser311Thr missense NM_001408479.1:c.931T>A NP_001395408.1:p.Ser311Thr missense NM_001408480.1:c.931T>A NP_001395409.1:p.Ser311Thr missense NM_001408481.1:c.928T>A NP_001395410.1:p.Ser310Thr missense NM_001408482.1:c.928T>A NP_001395411.1:p.Ser310Thr missense NM_001408483.1:c.928T>A NP_001395412.1:p.Ser310Thr missense NM_001408484.1:c.928T>A NP_001395413.1:p.Ser310Thr missense NM_001408485.1:c.928T>A NP_001395414.1:p.Ser310Thr missense NM_001408489.1:c.928T>A NP_001395418.1:p.Ser310Thr missense NM_001408490.1:c.928T>A NP_001395419.1:p.Ser310Thr missense NM_001408491.1:c.928T>A NP_001395420.1:p.Ser310Thr missense NM_001408492.1:c.925T>A NP_001395421.1:p.Ser309Thr missense NM_001408493.1:c.925T>A NP_001395422.1:p.Ser309Thr missense NM_001408494.1:c.901T>A NP_001395423.1:p.Ser301Thr missense NM_001408495.1:c.895T>A NP_001395424.1:p.Ser299Thr missense NM_001408496.1:c.877T>A NP_001395425.1:p.Ser293Thr missense NM_001408497.1:c.877T>A NP_001395426.1:p.Ser293Thr missense NM_001408498.1:c.877T>A NP_001395427.1:p.Ser293Thr missense NM_001408499.1:c.877T>A NP_001395428.1:p.Ser293Thr missense NM_001408500.1:c.877T>A NP_001395429.1:p.Ser293Thr missense NM_001408501.1:c.877T>A NP_001395430.1:p.Ser293Thr missense NM_001408502.1:c.874T>A NP_001395431.1:p.Ser292Thr missense NM_001408503.1:c.874T>A NP_001395432.1:p.Ser292Thr missense NM_001408504.1:c.874T>A NP_001395433.1:p.Ser292Thr missense NM_001408505.1:c.871T>A NP_001395434.1:p.Ser291Thr missense NM_001408506.1:c.814T>A NP_001395435.1:p.Ser272Thr missense NM_001408507.1:c.811T>A NP_001395436.1:p.Ser271Thr missense NM_001408508.1:c.802T>A NP_001395437.1:p.Ser268Thr missense NM_001408509.1:c.799T>A NP_001395438.1:p.Ser267Thr missense NM_001408510.1:c.760T>A NP_001395439.1:p.Ser254Thr missense NM_001408511.1:c.757T>A NP_001395440.1:p.Ser253Thr missense NM_001408512.1:c.637T>A NP_001395441.1:p.Ser213Thr missense NM_007297.4:c.4309T>A NP_009228.2:p.Ser1437Thr missense NM_007298.4:c.1138T>A NP_009229.2:p.Ser380Thr missense NM_007299.4:c.1138T>A NP_009230.2:p.Ser380Thr missense NM_007300.4:c.4513T>A NP_009231.2:p.Ser1505Thr missense NM_007304.2:c.1138T>A NP_009235.2:p.Ser380Thr missense NR_027676.2:n.4627T>A non-coding transcript variant NC_000017.11:g.43076522A>T NC_000017.10:g.41228539A>T NG_005905.2:g.141462T>A LRG_292:g.141462T>A LRG_292t1:c.4450T>A LRG_292p1:p.Ser1484Thr U14680.1:n.4569T>A - Protein change
- S1484T, S1437T, S1505T, S380T, S1371T, S1442T, S1456T, S1457T, S1464T, S1480T, S1482T, S1483T, S254T, S271T, S299T, S311T, S340T, S355T, S402T, S403T, S615T, S1187T, S1357T, S1396T, S1435T, S1443T, S1479T, S1506T, S213T, S253T, S292T, S293T, S301T, S309T, S334T, S342T, S356T, S377T, S379T, S1188T, S1315T, S1355T, S1356T, S1372T, S1373T, S1394T, S1413T, S1415T, S1417T, S1440T, S1441T, S1465T, S1504T, S272T, S291T, S310T, S314T, S333T, S338T, S354T, S378T, S381T, S616T, S1395T, S1412T, S1414T, S1436T, S1458T, S1481T, S267T, S268T, S313T, S332T, S336T, S339T, S341T
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076521:A:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Uncertain significance (1) |
no assertion criteria provided
|
Jan 15, 1999 | RCV000112335.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 12, 2019 | RCV000165863.4 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Feb 4, 2022 | RCV002513661.3 | |
Benign (1) |
criteria provided, single submitter
|
Feb 9, 2024 | RCV003607224.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Benign
(Feb 09, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV004543875.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
ACMG codes applied following ENIGMA VCEP rules: BP1_STR, BS3, PM2_SUP
|
|
Uncertain significance
(Aug 12, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000216612.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.S1484T variant (also known as c.4450T>A), located in coding exon 12 of the BRCA1 gene, results from a T to A substitution at nucleotide … (more)
The p.S1484T variant (also known as c.4450T>A), located in coding exon 12 of the BRCA1 gene, results from a T to A substitution at nucleotide position 4450. The serine at codon 1484 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
|
Uncertain significance
(Feb 04, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV003496321.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55201). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1484 of the BRCA1 protein (p.Ser1484Thr). This variant is not present in population databases (gnomAD no frequency). (less)
|
|
Uncertain significance
(Jan 15, 1999)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145088.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: Germany
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs80357404 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.