ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4664G>C (p.Arg1555Thr)
Germline
Classification
Help
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.
(1)
Help
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
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4664G>C (p.Arg1555Thr)
Variation ID: 1686510 Accession: VCV001686510.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074342 (GRCh38) [ NCBI UCSC ] 17: 41226359 (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 May 28, 2022 May 28, 2022 May 4, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4664G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg1555Thr missense NM_001407571.1:c.4451G>C NP_001394500.1:p.Arg1484Thr missense NM_001407581.1:c.4730G>C NP_001394510.1:p.Arg1577Thr missense NM_001407582.1:c.4730G>C NP_001394511.1:p.Arg1577Thr missense NM_001407583.1:c.4727G>C NP_001394512.1:p.Arg1576Thr missense NM_001407585.1:c.4727G>C NP_001394514.1:p.Arg1576Thr missense NM_001407587.1:c.4727G>C NP_001394516.1:p.Arg1576Thr missense NM_001407590.1:c.4724G>C NP_001394519.1:p.Arg1575Thr missense NM_001407591.1:c.4724G>C NP_001394520.1:p.Arg1575Thr missense NM_001407593.1:c.4664G>C NP_001394522.1:p.Arg1555Thr missense NM_001407594.1:c.4664G>C NP_001394523.1:p.Arg1555Thr missense NM_001407596.1:c.4664G>C NP_001394525.1:p.Arg1555Thr missense NM_001407597.1:c.4664G>C NP_001394526.1:p.Arg1555Thr missense NM_001407598.1:c.4664G>C NP_001394527.1:p.Arg1555Thr missense NM_001407602.1:c.4664G>C NP_001394531.1:p.Arg1555Thr missense NM_001407603.1:c.4664G>C NP_001394532.1:p.Arg1555Thr missense NM_001407605.1:c.4664G>C NP_001394534.1:p.Arg1555Thr missense NM_001407610.1:c.4661G>C NP_001394539.1:p.Arg1554Thr missense NM_001407611.1:c.4661G>C NP_001394540.1:p.Arg1554Thr missense NM_001407612.1:c.4661G>C NP_001394541.1:p.Arg1554Thr missense NM_001407613.1:c.4661G>C NP_001394542.1:p.Arg1554Thr missense NM_001407614.1:c.4661G>C NP_001394543.1:p.Arg1554Thr missense NM_001407615.1:c.4661G>C NP_001394544.1:p.Arg1554Thr missense NM_001407616.1:c.4661G>C NP_001394545.1:p.Arg1554Thr missense NM_001407617.1:c.4661G>C NP_001394546.1:p.Arg1554Thr missense NM_001407618.1:c.4661G>C NP_001394547.1:p.Arg1554Thr missense NM_001407619.1:c.4661G>C NP_001394548.1:p.Arg1554Thr missense NM_001407620.1:c.4661G>C NP_001394549.1:p.Arg1554Thr missense NM_001407621.1:c.4661G>C NP_001394550.1:p.Arg1554Thr missense NM_001407622.1:c.4661G>C NP_001394551.1:p.Arg1554Thr missense NM_001407623.1:c.4661G>C NP_001394552.1:p.Arg1554Thr missense NM_001407624.1:c.4661G>C NP_001394553.1:p.Arg1554Thr missense NM_001407625.1:c.4661G>C NP_001394554.1:p.Arg1554Thr missense NM_001407626.1:c.4661G>C NP_001394555.1:p.Arg1554Thr missense NM_001407627.1:c.4658G>C NP_001394556.1:p.Arg1553Thr missense NM_001407628.1:c.4658G>C NP_001394557.1:p.Arg1553Thr missense NM_001407629.1:c.4658G>C NP_001394558.1:p.Arg1553Thr missense NM_001407630.1:c.4658G>C NP_001394559.1:p.Arg1553Thr missense NM_001407631.1:c.4658G>C NP_001394560.1:p.Arg1553Thr missense NM_001407632.1:c.4658G>C NP_001394561.1:p.Arg1553Thr missense NM_001407633.1:c.4658G>C NP_001394562.1:p.Arg1553Thr missense NM_001407634.1:c.4658G>C NP_001394563.1:p.Arg1553Thr missense NM_001407635.1:c.4658G>C NP_001394564.1:p.Arg1553Thr missense NM_001407636.1:c.4658G>C NP_001394565.1:p.Arg1553Thr missense NM_001407637.1:c.4658G>C NP_001394566.1:p.Arg1553Thr missense NM_001407638.1:c.4658G>C NP_001394567.1:p.Arg1553Thr missense NM_001407639.1:c.4658G>C NP_001394568.1:p.Arg1553Thr missense NM_001407640.1:c.4658G>C NP_001394569.1:p.Arg1553Thr missense NM_001407641.1:c.4658G>C NP_001394570.1:p.Arg1553Thr missense NM_001407642.1:c.4658G>C NP_001394571.1:p.Arg1553Thr missense NM_001407644.1:c.4655G>C NP_001394573.1:p.Arg1552Thr missense NM_001407645.1:c.4655G>C NP_001394574.1:p.Arg1552Thr missense NM_001407646.1:c.4652G>C NP_001394575.1:p.Arg1551Thr missense NM_001407647.1:c.4649G>C NP_001394576.1:p.Arg1550Thr missense NM_001407648.1:c.4607G>C NP_001394577.1:p.Arg1536Thr missense NM_001407649.1:c.4604G>C NP_001394578.1:p.Arg1535Thr missense NM_001407652.1:c.4664G>C NP_001394581.1:p.Arg1555Thr missense NM_001407653.1:c.4586G>C NP_001394582.1:p.Arg1529Thr missense NM_001407654.1:c.4586G>C NP_001394583.1:p.Arg1529Thr missense NM_001407655.1:c.4586G>C NP_001394584.1:p.Arg1529Thr missense NM_001407656.1:c.4583G>C NP_001394585.1:p.Arg1528Thr missense NM_001407657.1:c.4583G>C NP_001394586.1:p.Arg1528Thr missense NM_001407658.1:c.4583G>C NP_001394587.1:p.Arg1528Thr missense NM_001407659.1:c.4580G>C NP_001394588.1:p.Arg1527Thr missense NM_001407660.1:c.4580G>C NP_001394589.1:p.Arg1527Thr missense NM_001407661.1:c.4580G>C NP_001394590.1:p.Arg1527Thr missense NM_001407662.1:c.4580G>C NP_001394591.1:p.Arg1527Thr missense NM_001407663.1:c.4580G>C NP_001394592.1:p.Arg1527Thr missense NM_001407664.1:c.4541G>C NP_001394593.1:p.Arg1514Thr missense NM_001407665.1:c.4541G>C NP_001394594.1:p.Arg1514Thr missense NM_001407666.1:c.4541G>C NP_001394595.1:p.Arg1514Thr missense NM_001407667.1:c.4541G>C NP_001394596.1:p.Arg1514Thr missense NM_001407668.1:c.4541G>C NP_001394597.1:p.Arg1514Thr missense NM_001407669.1:c.4541G>C NP_001394598.1:p.Arg1514Thr missense NM_001407670.1:c.4538G>C NP_001394599.1:p.Arg1513Thr missense NM_001407671.1:c.4538G>C NP_001394600.1:p.Arg1513Thr missense NM_001407672.1:c.4538G>C NP_001394601.1:p.Arg1513Thr missense NM_001407673.1:c.4538G>C NP_001394602.1:p.Arg1513Thr missense NM_001407674.1:c.4538G>C NP_001394603.1:p.Arg1513Thr missense NM_001407675.1:c.4538G>C NP_001394604.1:p.Arg1513Thr missense NM_001407676.1:c.4538G>C NP_001394605.1:p.Arg1513Thr missense NM_001407677.1:c.4538G>C NP_001394606.1:p.Arg1513Thr missense NM_001407678.1:c.4538G>C NP_001394607.1:p.Arg1513Thr missense NM_001407679.1:c.4538G>C NP_001394608.1:p.Arg1513Thr missense NM_001407680.1:c.4538G>C NP_001394609.1:p.Arg1513Thr missense NM_001407681.1:c.4535G>C NP_001394610.1:p.Arg1512Thr missense NM_001407682.1:c.4535G>C NP_001394611.1:p.Arg1512Thr missense NM_001407683.1:c.4535G>C NP_001394612.1:p.Arg1512Thr missense NM_001407684.1:c.4664G>C NP_001394613.1:p.Arg1555Thr missense NM_001407685.1:c.4535G>C NP_001394614.1:p.Arg1512Thr missense NM_001407686.1:c.4535G>C NP_001394615.1:p.Arg1512Thr missense NM_001407687.1:c.4535G>C NP_001394616.1:p.Arg1512Thr missense NM_001407688.1:c.4535G>C NP_001394617.1:p.Arg1512Thr missense NM_001407689.1:c.4535G>C NP_001394618.1:p.Arg1512Thr missense NM_001407690.1:c.4532G>C NP_001394619.1:p.Arg1511Thr missense NM_001407691.1:c.4532G>C NP_001394620.1:p.Arg1511Thr missense NM_001407692.1:c.4523G>C NP_001394621.1:p.Arg1508Thr missense NM_001407694.1:c.4523G>C NP_001394623.1:p.Arg1508Thr missense NM_001407695.1:c.4523G>C NP_001394624.1:p.Arg1508Thr missense NM_001407696.1:c.4523G>C NP_001394625.1:p.Arg1508Thr missense NM_001407697.1:c.4523G>C NP_001394626.1:p.Arg1508Thr missense NM_001407698.1:c.4523G>C NP_001394627.1:p.Arg1508Thr missense NM_001407724.1:c.4523G>C NP_001394653.1:p.Arg1508Thr missense NM_001407725.1:c.4523G>C NP_001394654.1:p.Arg1508Thr missense NM_001407726.1:c.4523G>C NP_001394655.1:p.Arg1508Thr missense NM_001407727.1:c.4523G>C NP_001394656.1:p.Arg1508Thr missense NM_001407728.1:c.4523G>C NP_001394657.1:p.Arg1508Thr missense NM_001407729.1:c.4523G>C NP_001394658.1:p.Arg1508Thr missense NM_001407730.1:c.4523G>C NP_001394659.1:p.Arg1508Thr missense NM_001407731.1:c.4523G>C NP_001394660.1:p.Arg1508Thr missense NM_001407732.1:c.4520G>C NP_001394661.1:p.Arg1507Thr missense NM_001407733.1:c.4520G>C NP_001394662.1:p.Arg1507Thr missense NM_001407734.1:c.4520G>C NP_001394663.1:p.Arg1507Thr missense NM_001407735.1:c.4520G>C NP_001394664.1:p.Arg1507Thr missense NM_001407736.1:c.4520G>C NP_001394665.1:p.Arg1507Thr missense NM_001407737.1:c.4520G>C NP_001394666.1:p.Arg1507Thr missense NM_001407738.1:c.4520G>C NP_001394667.1:p.Arg1507Thr missense NM_001407739.1:c.4520G>C NP_001394668.1:p.Arg1507Thr missense NM_001407740.1:c.4520G>C NP_001394669.1:p.Arg1507Thr missense NM_001407741.1:c.4520G>C NP_001394670.1:p.Arg1507Thr missense NM_001407742.1:c.4520G>C NP_001394671.1:p.Arg1507Thr missense NM_001407743.1:c.4520G>C NP_001394672.1:p.Arg1507Thr missense NM_001407744.1:c.4520G>C NP_001394673.1:p.Arg1507Thr missense NM_001407745.1:c.4520G>C NP_001394674.1:p.Arg1507Thr missense NM_001407746.1:c.4520G>C NP_001394675.1:p.Arg1507Thr missense NM_001407747.1:c.4520G>C NP_001394676.1:p.Arg1507Thr missense NM_001407748.1:c.4520G>C NP_001394677.1:p.Arg1507Thr missense NM_001407749.1:c.4520G>C NP_001394678.1:p.Arg1507Thr missense NM_001407750.1:c.4520G>C NP_001394679.1:p.Arg1507Thr missense NM_001407751.1:c.4520G>C NP_001394680.1:p.Arg1507Thr missense NM_001407752.1:c.4520G>C NP_001394681.1:p.Arg1507Thr missense NM_001407838.1:c.4517G>C NP_001394767.1:p.Arg1506Thr missense NM_001407839.1:c.4517G>C NP_001394768.1:p.Arg1506Thr missense NM_001407841.1:c.4517G>C NP_001394770.1:p.Arg1506Thr missense NM_001407842.1:c.4517G>C NP_001394771.1:p.Arg1506Thr missense NM_001407843.1:c.4517G>C NP_001394772.1:p.Arg1506Thr missense NM_001407844.1:c.4517G>C NP_001394773.1:p.Arg1506Thr missense NM_001407845.1:c.4517G>C NP_001394774.1:p.Arg1506Thr missense NM_001407846.1:c.4517G>C NP_001394775.1:p.Arg1506Thr missense NM_001407847.1:c.4517G>C NP_001394776.1:p.Arg1506Thr missense NM_001407848.1:c.4517G>C NP_001394777.1:p.Arg1506Thr missense NM_001407849.1:c.4517G>C NP_001394778.1:p.Arg1506Thr missense NM_001407850.1:c.4517G>C NP_001394779.1:p.Arg1506Thr missense NM_001407851.1:c.4517G>C NP_001394780.1:p.Arg1506Thr missense NM_001407852.1:c.4517G>C NP_001394781.1:p.Arg1506Thr missense NM_001407853.1:c.4517G>C NP_001394782.1:p.Arg1506Thr missense NM_001407854.1:c.4664G>C NP_001394783.1:p.Arg1555Thr missense NM_001407858.1:c.4661G>C NP_001394787.1:p.Arg1554Thr missense NM_001407859.1:c.4661G>C NP_001394788.1:p.Arg1554Thr missense NM_001407860.1:c.4661G>C NP_001394789.1:p.Arg1554Thr missense NM_001407861.1:c.4658G>C NP_001394790.1:p.Arg1553Thr missense NM_001407862.1:c.4463G>C NP_001394791.1:p.Arg1488Thr missense NM_001407863.1:c.4538G>C NP_001394792.1:p.Arg1513Thr missense NM_001407874.1:c.4457G>C NP_001394803.1:p.Arg1486Thr missense NM_001407875.1:c.4457G>C NP_001394804.1:p.Arg1486Thr missense NM_001407879.1:c.4454G>C NP_001394808.1:p.Arg1485Thr missense NM_001407881.1:c.4454G>C NP_001394810.1:p.Arg1485Thr missense NM_001407882.1:c.4454G>C NP_001394811.1:p.Arg1485Thr missense NM_001407884.1:c.4454G>C NP_001394813.1:p.Arg1485Thr missense NM_001407885.1:c.4454G>C NP_001394814.1:p.Arg1485Thr missense NM_001407886.1:c.4454G>C NP_001394815.1:p.Arg1485Thr missense NM_001407887.1:c.4454G>C NP_001394816.1:p.Arg1485Thr missense NM_001407889.1:c.4454G>C NP_001394818.1:p.Arg1485Thr missense NM_001407894.1:c.4451G>C NP_001394823.1:p.Arg1484Thr missense NM_001407895.1:c.4451G>C NP_001394824.1:p.Arg1484Thr missense NM_001407896.1:c.4451G>C NP_001394825.1:p.Arg1484Thr missense NM_001407897.1:c.4451G>C NP_001394826.1:p.Arg1484Thr missense NM_001407898.1:c.4451G>C NP_001394827.1:p.Arg1484Thr missense NM_001407899.1:c.4451G>C NP_001394828.1:p.Arg1484Thr missense NM_001407900.1:c.4451G>C NP_001394829.1:p.Arg1484Thr missense NM_001407902.1:c.4451G>C NP_001394831.1:p.Arg1484Thr missense NM_001407904.1:c.4451G>C NP_001394833.1:p.Arg1484Thr missense NM_001407906.1:c.4451G>C NP_001394835.1:p.Arg1484Thr missense NM_001407907.1:c.4451G>C NP_001394836.1:p.Arg1484Thr missense NM_001407908.1:c.4451G>C NP_001394837.1:p.Arg1484Thr missense NM_001407909.1:c.4451G>C NP_001394838.1:p.Arg1484Thr missense NM_001407910.1:c.4451G>C NP_001394839.1:p.Arg1484Thr missense NM_001407915.1:c.4448G>C NP_001394844.1:p.Arg1483Thr missense NM_001407916.1:c.4448G>C NP_001394845.1:p.Arg1483Thr missense NM_001407917.1:c.4448G>C NP_001394846.1:p.Arg1483Thr missense NM_001407918.1:c.4448G>C NP_001394847.1:p.Arg1483Thr missense NM_001407919.1:c.4541G>C NP_001394848.1:p.Arg1514Thr missense NM_001407920.1:c.4400G>C NP_001394849.1:p.Arg1467Thr missense NM_001407921.1:c.4400G>C NP_001394850.1:p.Arg1467Thr missense NM_001407922.1:c.4400G>C NP_001394851.1:p.Arg1467Thr missense NM_001407923.1:c.4400G>C NP_001394852.1:p.Arg1467Thr missense NM_001407924.1:c.4400G>C NP_001394853.1:p.Arg1467Thr missense NM_001407925.1:c.4400G>C NP_001394854.1:p.Arg1467Thr missense NM_001407926.1:c.4400G>C NP_001394855.1:p.Arg1467Thr missense NM_001407927.1:c.4397G>C NP_001394856.1:p.Arg1466Thr missense NM_001407928.1:c.4397G>C NP_001394857.1:p.Arg1466Thr missense NM_001407929.1:c.4397G>C NP_001394858.1:p.Arg1466Thr missense NM_001407930.1:c.4397G>C NP_001394859.1:p.Arg1466Thr missense NM_001407931.1:c.4397G>C NP_001394860.1:p.Arg1466Thr missense NM_001407932.1:c.4397G>C NP_001394861.1:p.Arg1466Thr missense NM_001407933.1:c.4397G>C NP_001394862.1:p.Arg1466Thr missense NM_001407934.1:c.4394G>C NP_001394863.1:p.Arg1465Thr missense NM_001407935.1:c.4394G>C NP_001394864.1:p.Arg1465Thr missense NM_001407936.1:c.4394G>C NP_001394865.1:p.Arg1465Thr missense NM_001407937.1:c.4541G>C NP_001394866.1:p.Arg1514Thr missense NM_001407938.1:c.4541G>C NP_001394867.1:p.Arg1514Thr missense NM_001407939.1:c.4538G>C NP_001394868.1:p.Arg1513Thr missense NM_001407940.1:c.4538G>C NP_001394869.1:p.Arg1513Thr missense NM_001407941.1:c.4535G>C NP_001394870.1:p.Arg1512Thr missense NM_001407942.1:c.4523G>C NP_001394871.1:p.Arg1508Thr missense NM_001407943.1:c.4520G>C NP_001394872.1:p.Arg1507Thr missense NM_001407944.1:c.4520G>C NP_001394873.1:p.Arg1507Thr missense NM_001407945.1:c.4520G>C NP_001394874.1:p.Arg1507Thr missense NM_001407946.1:c.4331G>C NP_001394875.1:p.Arg1444Thr missense NM_001407947.1:c.4331G>C NP_001394876.1:p.Arg1444Thr missense NM_001407948.1:c.4331G>C NP_001394877.1:p.Arg1444Thr missense NM_001407949.1:c.4331G>C NP_001394878.1:p.Arg1444Thr missense NM_001407950.1:c.4328G>C NP_001394879.1:p.Arg1443Thr missense NM_001407951.1:c.4328G>C NP_001394880.1:p.Arg1443Thr missense NM_001407952.1:c.4328G>C NP_001394881.1:p.Arg1443Thr missense NM_001407953.1:c.4328G>C NP_001394882.1:p.Arg1443Thr missense NM_001407954.1:c.4328G>C NP_001394883.1:p.Arg1443Thr missense NM_001407955.1:c.4328G>C NP_001394884.1:p.Arg1443Thr missense NM_001407956.1:c.4325G>C NP_001394885.1:p.Arg1442Thr missense NM_001407957.1:c.4325G>C NP_001394886.1:p.Arg1442Thr missense NM_001407958.1:c.4325G>C NP_001394887.1:p.Arg1442Thr missense NM_001407959.1:c.4283G>C NP_001394888.1:p.Arg1428Thr missense NM_001407960.1:c.4280G>C NP_001394889.1:p.Arg1427Thr missense NM_001407962.1:c.4280G>C NP_001394891.1:p.Arg1427Thr missense NM_001407963.1:c.4277G>C NP_001394892.1:p.Arg1426Thr missense NM_001407965.1:c.4157G>C NP_001394894.1:p.Arg1386Thr missense NM_001407966.1:c.3776G>C NP_001394895.1:p.Arg1259Thr missense NM_001407967.1:c.3773G>C NP_001394896.1:p.Arg1258Thr missense NM_001407968.1:c.2060G>C NP_001394897.1:p.Arg687Thr missense NM_001407969.1:c.2057G>C NP_001394898.1:p.Arg686Thr missense NM_001407970.1:c.1421G>C NP_001394899.1:p.Arg474Thr missense NM_001407971.1:c.1421G>C NP_001394900.1:p.Arg474Thr missense NM_001407972.1:c.1418G>C NP_001394901.1:p.Arg473Thr missense NM_001407973.1:c.1355G>C NP_001394902.1:p.Arg452Thr missense NM_001407974.1:c.1355G>C NP_001394903.1:p.Arg452Thr missense NM_001407975.1:c.1355G>C NP_001394904.1:p.Arg452Thr missense NM_001407976.1:c.1355G>C NP_001394905.1:p.Arg452Thr missense NM_001407977.1:c.1355G>C NP_001394906.1:p.Arg452Thr missense NM_001407978.1:c.1355G>C NP_001394907.1:p.Arg452Thr missense NM_001407979.1:c.1352G>C NP_001394908.1:p.Arg451Thr missense NM_001407980.1:c.1352G>C NP_001394909.1:p.Arg451Thr missense NM_001407981.1:c.1352G>C NP_001394910.1:p.Arg451Thr missense NM_001407982.1:c.1352G>C NP_001394911.1:p.Arg451Thr missense NM_001407983.1:c.1352G>C NP_001394912.1:p.Arg451Thr missense NM_001407984.1:c.1352G>C NP_001394913.1:p.Arg451Thr missense NM_001407985.1:c.1352G>C NP_001394914.1:p.Arg451Thr missense NM_001407986.1:c.1352G>C NP_001394915.1:p.Arg451Thr missense NM_001407990.1:c.1352G>C NP_001394919.1:p.Arg451Thr missense NM_001407991.1:c.1352G>C NP_001394920.1:p.Arg451Thr missense NM_001407992.1:c.1352G>C NP_001394921.1:p.Arg451Thr missense NM_001407993.1:c.1352G>C NP_001394922.1:p.Arg451Thr missense NM_001408392.1:c.1349G>C NP_001395321.1:p.Arg450Thr missense NM_001408396.1:c.1349G>C NP_001395325.1:p.Arg450Thr missense NM_001408397.1:c.1349G>C NP_001395326.1:p.Arg450Thr missense NM_001408398.1:c.1349G>C NP_001395327.1:p.Arg450Thr missense NM_001408399.1:c.1349G>C NP_001395328.1:p.Arg450Thr missense NM_001408400.1:c.1349G>C NP_001395329.1:p.Arg450Thr missense NM_001408401.1:c.1349G>C NP_001395330.1:p.Arg450Thr missense NM_001408402.1:c.1349G>C NP_001395331.1:p.Arg450Thr missense NM_001408403.1:c.1349G>C NP_001395332.1:p.Arg450Thr missense NM_001408404.1:c.1349G>C NP_001395333.1:p.Arg450Thr missense NM_001408406.1:c.1346G>C NP_001395335.1:p.Arg449Thr missense NM_001408407.1:c.1346G>C NP_001395336.1:p.Arg449Thr missense NM_001408408.1:c.1346G>C NP_001395337.1:p.Arg449Thr missense NM_001408409.1:c.1343G>C NP_001395338.1:p.Arg448Thr missense NM_001408410.1:c.1280G>C NP_001395339.1:p.Arg427Thr missense NM_001408411.1:c.1277G>C NP_001395340.1:p.Arg426Thr missense NM_001408412.1:c.1274G>C NP_001395341.1:p.Arg425Thr missense NM_001408413.1:c.1274G>C NP_001395342.1:p.Arg425Thr missense NM_001408414.1:c.1274G>C NP_001395343.1:p.Arg425Thr missense NM_001408415.1:c.1274G>C NP_001395344.1:p.Arg425Thr missense NM_001408416.1:c.1274G>C NP_001395345.1:p.Arg425Thr missense NM_001408418.1:c.1238G>C NP_001395347.1:p.Arg413Thr missense NM_001408419.1:c.1238G>C NP_001395348.1:p.Arg413Thr missense NM_001408420.1:c.1238G>C NP_001395349.1:p.Arg413Thr missense NM_001408421.1:c.1235G>C NP_001395350.1:p.Arg412Thr missense NM_001408422.1:c.1235G>C NP_001395351.1:p.Arg412Thr missense NM_001408423.1:c.1235G>C NP_001395352.1:p.Arg412Thr missense NM_001408424.1:c.1235G>C NP_001395353.1:p.Arg412Thr missense NM_001408425.1:c.1232G>C NP_001395354.1:p.Arg411Thr missense NM_001408426.1:c.1232G>C NP_001395355.1:p.Arg411Thr missense NM_001408427.1:c.1232G>C NP_001395356.1:p.Arg411Thr missense NM_001408428.1:c.1232G>C NP_001395357.1:p.Arg411Thr missense NM_001408429.1:c.1232G>C NP_001395358.1:p.Arg411Thr missense NM_001408430.1:c.1232G>C NP_001395359.1:p.Arg411Thr missense NM_001408431.1:c.1232G>C NP_001395360.1:p.Arg411Thr missense NM_001408432.1:c.1229G>C NP_001395361.1:p.Arg410Thr missense NM_001408433.1:c.1229G>C NP_001395362.1:p.Arg410Thr missense NM_001408434.1:c.1229G>C NP_001395363.1:p.Arg410Thr missense NM_001408435.1:c.1229G>C NP_001395364.1:p.Arg410Thr missense NM_001408436.1:c.1229G>C NP_001395365.1:p.Arg410Thr missense NM_001408437.1:c.1229G>C NP_001395366.1:p.Arg410Thr missense NM_001408438.1:c.1229G>C NP_001395367.1:p.Arg410Thr missense NM_001408439.1:c.1229G>C NP_001395368.1:p.Arg410Thr missense NM_001408440.1:c.1229G>C NP_001395369.1:p.Arg410Thr missense NM_001408441.1:c.1229G>C NP_001395370.1:p.Arg410Thr missense NM_001408442.1:c.1229G>C NP_001395371.1:p.Arg410Thr missense NM_001408443.1:c.1229G>C NP_001395372.1:p.Arg410Thr missense NM_001408444.1:c.1229G>C NP_001395373.1:p.Arg410Thr missense NM_001408445.1:c.1226G>C NP_001395374.1:p.Arg409Thr missense NM_001408446.1:c.1226G>C NP_001395375.1:p.Arg409Thr missense NM_001408447.1:c.1226G>C NP_001395376.1:p.Arg409Thr missense NM_001408448.1:c.1226G>C NP_001395377.1:p.Arg409Thr missense NM_001408450.1:c.1226G>C NP_001395379.1:p.Arg409Thr missense NM_001408451.1:c.1220G>C NP_001395380.1:p.Arg407Thr missense NM_001408452.1:c.1214G>C NP_001395381.1:p.Arg405Thr missense NM_001408453.1:c.1214G>C NP_001395382.1:p.Arg405Thr missense NM_001408454.1:c.1214G>C NP_001395383.1:p.Arg405Thr missense NM_001408455.1:c.1214G>C NP_001395384.1:p.Arg405Thr missense NM_001408456.1:c.1214G>C NP_001395385.1:p.Arg405Thr missense NM_001408457.1:c.1214G>C NP_001395386.1:p.Arg405Thr missense NM_001408458.1:c.1211G>C NP_001395387.1:p.Arg404Thr missense NM_001408459.1:c.1211G>C NP_001395388.1:p.Arg404Thr missense NM_001408460.1:c.1211G>C NP_001395389.1:p.Arg404Thr missense NM_001408461.1:c.1211G>C NP_001395390.1:p.Arg404Thr missense NM_001408462.1:c.1211G>C NP_001395391.1:p.Arg404Thr missense NM_001408463.1:c.1211G>C NP_001395392.1:p.Arg404Thr missense NM_001408464.1:c.1211G>C NP_001395393.1:p.Arg404Thr missense NM_001408465.1:c.1211G>C NP_001395394.1:p.Arg404Thr missense NM_001408466.1:c.1211G>C NP_001395395.1:p.Arg404Thr missense NM_001408467.1:c.1211G>C NP_001395396.1:p.Arg404Thr missense NM_001408468.1:c.1208G>C NP_001395397.1:p.Arg403Thr missense NM_001408469.1:c.1208G>C NP_001395398.1:p.Arg403Thr missense NM_001408470.1:c.1208G>C NP_001395399.1:p.Arg403Thr missense NM_001408472.1:c.1352G>C NP_001395401.1:p.Arg451Thr missense NM_001408473.1:c.1349G>C NP_001395402.1:p.Arg450Thr missense NM_001408474.1:c.1154G>C NP_001395403.1:p.Arg385Thr missense NM_001408475.1:c.1151G>C NP_001395404.1:p.Arg384Thr missense NM_001408476.1:c.1151G>C NP_001395405.1:p.Arg384Thr missense NM_001408478.1:c.1145G>C NP_001395407.1:p.Arg382Thr missense NM_001408479.1:c.1145G>C NP_001395408.1:p.Arg382Thr missense NM_001408480.1:c.1145G>C NP_001395409.1:p.Arg382Thr missense NM_001408481.1:c.1142G>C NP_001395410.1:p.Arg381Thr missense NM_001408482.1:c.1142G>C NP_001395411.1:p.Arg381Thr missense NM_001408483.1:c.1142G>C NP_001395412.1:p.Arg381Thr missense NM_001408484.1:c.1142G>C NP_001395413.1:p.Arg381Thr missense NM_001408485.1:c.1142G>C NP_001395414.1:p.Arg381Thr missense NM_001408489.1:c.1142G>C NP_001395418.1:p.Arg381Thr missense NM_001408490.1:c.1142G>C NP_001395419.1:p.Arg381Thr missense NM_001408491.1:c.1142G>C NP_001395420.1:p.Arg381Thr missense NM_001408492.1:c.1139G>C NP_001395421.1:p.Arg380Thr missense NM_001408493.1:c.1139G>C NP_001395422.1:p.Arg380Thr missense NM_001408494.1:c.1115G>C NP_001395423.1:p.Arg372Thr missense NM_001408495.1:c.1109G>C NP_001395424.1:p.Arg370Thr missense NM_001408496.1:c.1091G>C NP_001395425.1:p.Arg364Thr missense NM_001408497.1:c.1091G>C NP_001395426.1:p.Arg364Thr missense NM_001408498.1:c.1091G>C NP_001395427.1:p.Arg364Thr missense NM_001408499.1:c.1091G>C NP_001395428.1:p.Arg364Thr missense NM_001408500.1:c.1091G>C NP_001395429.1:p.Arg364Thr missense NM_001408501.1:c.1091G>C NP_001395430.1:p.Arg364Thr missense NM_001408502.1:c.1088G>C NP_001395431.1:p.Arg363Thr missense NM_001408503.1:c.1088G>C NP_001395432.1:p.Arg363Thr missense NM_001408504.1:c.1088G>C NP_001395433.1:p.Arg363Thr missense NM_001408505.1:c.1085G>C NP_001395434.1:p.Arg362Thr missense NM_001408506.1:c.1028G>C NP_001395435.1:p.Arg343Thr missense NM_001408507.1:c.1025G>C NP_001395436.1:p.Arg342Thr missense NM_001408508.1:c.1016G>C NP_001395437.1:p.Arg339Thr missense NM_001408509.1:c.1013G>C NP_001395438.1:p.Arg338Thr missense NM_001408510.1:c.974G>C NP_001395439.1:p.Arg325Thr missense NM_001408511.1:c.971G>C NP_001395440.1:p.Arg324Thr missense NM_001408512.1:c.851G>C NP_001395441.1:p.Arg284Thr missense NM_007297.4:c.4523G>C NP_009228.2:p.Arg1508Thr missense NM_007298.4:c.1352G>C NP_009229.2:p.Arg451Thr missense NM_007299.4:c.1352G>C NP_009230.2:p.Arg451Thr missense NM_007300.4:c.4727G>C NP_009231.2:p.Arg1576Thr missense NM_007304.2:c.1352G>C NP_009235.2:p.Arg451Thr missense NR_027676.2:n.4841G>C non-coding transcript variant NC_000017.11:g.43074342C>G NC_000017.10:g.41226359C>G NG_005905.2:g.143642G>C LRG_292:g.143642G>C LRG_292t1:c.4664G>C LRG_292p1:p.Arg1555Thr - Protein change
- R1508T, R1555T, R1576T, R451T, R1258T, R1259T, R1428T, R1483T, R1484T, R1513T, R1529T, R1536T, R1550T, R1553T, R380T, R409T, R410T, R412T, R425T, R686T, R1386T, R1426T, R1427T, R1465T, R1466T, R1467T, R1485T, R1507T, R1511T, R1512T, R1514T, R1535T, R1552T, R1577T, R284T, R324T, R338T, R342T, R343T, R381T, R384T, R426T, R427T, R474T, R1442T, R1443T, R1444T, R1506T, R1527T, R1528T, R1554T, R325T, R362T, R363T, R404T, R405T, R448T, R450T, R452T, R1486T, R1488T, R1551T, R1575T, R339T, R364T, R370T, R372T, R382T, R385T, R403T, R407T, R411T, R413T, R449T, R473T, R687T
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074341:C:G
-
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.
- -
- Links
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 |
13044 | 14850 | |
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) |
criteria provided, single submitter
|
May 4, 2022 | RCV002247023.2 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(May 04, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Mendelics
Accession: SCV002517947.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
|
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
Help| There 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 rs786202165 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Dec 25, 2023
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.