ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.410T>C (p.Leu137Pro)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.410T>C (p.Leu137Pro)
Variation ID: 216666 Accession: VCV000216666.6
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43104153 (GRCh38) [ NCBI UCSC ] 17: 41256170 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Oct 11, 2015 Feb 28, 2024 Feb 19, 2015 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.410T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu137Pro missense NM_001407571.1:c.200T>C NP_001394500.1:p.Leu67Pro missense NM_001407581.1:c.410T>C NP_001394510.1:p.Leu137Pro missense NM_001407582.1:c.410T>C NP_001394511.1:p.Leu137Pro missense NM_001407583.1:c.410T>C NP_001394512.1:p.Leu137Pro missense NM_001407585.1:c.410T>C NP_001394514.1:p.Leu137Pro missense NM_001407587.1:c.410T>C NP_001394516.1:p.Leu137Pro missense NM_001407590.1:c.410T>C NP_001394519.1:p.Leu137Pro missense NM_001407591.1:c.410T>C NP_001394520.1:p.Leu137Pro missense NM_001407593.1:c.410T>C NP_001394522.1:p.Leu137Pro missense NM_001407594.1:c.410T>C NP_001394523.1:p.Leu137Pro missense NM_001407596.1:c.410T>C NP_001394525.1:p.Leu137Pro missense NM_001407597.1:c.410T>C NP_001394526.1:p.Leu137Pro missense NM_001407598.1:c.410T>C NP_001394527.1:p.Leu137Pro missense NM_001407602.1:c.410T>C NP_001394531.1:p.Leu137Pro missense NM_001407603.1:c.410T>C NP_001394532.1:p.Leu137Pro missense NM_001407605.1:c.410T>C NP_001394534.1:p.Leu137Pro missense NM_001407610.1:c.410T>C NP_001394539.1:p.Leu137Pro missense NM_001407611.1:c.410T>C NP_001394540.1:p.Leu137Pro missense NM_001407612.1:c.410T>C NP_001394541.1:p.Leu137Pro missense NM_001407613.1:c.410T>C NP_001394542.1:p.Leu137Pro missense NM_001407614.1:c.410T>C NP_001394543.1:p.Leu137Pro missense NM_001407615.1:c.410T>C NP_001394544.1:p.Leu137Pro missense NM_001407616.1:c.410T>C NP_001394545.1:p.Leu137Pro missense NM_001407617.1:c.410T>C NP_001394546.1:p.Leu137Pro missense NM_001407618.1:c.410T>C NP_001394547.1:p.Leu137Pro missense NM_001407619.1:c.410T>C NP_001394548.1:p.Leu137Pro missense NM_001407620.1:c.410T>C NP_001394549.1:p.Leu137Pro missense NM_001407621.1:c.410T>C NP_001394550.1:p.Leu137Pro missense NM_001407622.1:c.410T>C NP_001394551.1:p.Leu137Pro missense NM_001407623.1:c.410T>C NP_001394552.1:p.Leu137Pro missense NM_001407624.1:c.410T>C NP_001394553.1:p.Leu137Pro missense NM_001407625.1:c.410T>C NP_001394554.1:p.Leu137Pro missense NM_001407626.1:c.410T>C NP_001394555.1:p.Leu137Pro missense NM_001407627.1:c.410T>C NP_001394556.1:p.Leu137Pro missense NM_001407628.1:c.410T>C NP_001394557.1:p.Leu137Pro missense NM_001407629.1:c.410T>C NP_001394558.1:p.Leu137Pro missense NM_001407630.1:c.410T>C NP_001394559.1:p.Leu137Pro missense NM_001407631.1:c.410T>C NP_001394560.1:p.Leu137Pro missense NM_001407632.1:c.410T>C NP_001394561.1:p.Leu137Pro missense NM_001407633.1:c.410T>C NP_001394562.1:p.Leu137Pro missense NM_001407634.1:c.410T>C NP_001394563.1:p.Leu137Pro missense NM_001407635.1:c.410T>C NP_001394564.1:p.Leu137Pro missense NM_001407636.1:c.410T>C NP_001394565.1:p.Leu137Pro missense NM_001407637.1:c.410T>C NP_001394566.1:p.Leu137Pro missense NM_001407638.1:c.410T>C NP_001394567.1:p.Leu137Pro missense NM_001407639.1:c.410T>C NP_001394568.1:p.Leu137Pro missense NM_001407640.1:c.410T>C NP_001394569.1:p.Leu137Pro missense NM_001407641.1:c.410T>C NP_001394570.1:p.Leu137Pro missense NM_001407642.1:c.410T>C NP_001394571.1:p.Leu137Pro missense NM_001407644.1:c.410T>C NP_001394573.1:p.Leu137Pro missense NM_001407645.1:c.410T>C NP_001394574.1:p.Leu137Pro missense NM_001407646.1:c.401T>C NP_001394575.1:p.Leu134Pro missense NM_001407647.1:c.401T>C NP_001394576.1:p.Leu134Pro missense NM_001407648.1:c.410T>C NP_001394577.1:p.Leu137Pro missense NM_001407649.1:c.410T>C NP_001394578.1:p.Leu137Pro missense NM_001407652.1:c.410T>C NP_001394581.1:p.Leu137Pro missense NM_001407653.1:c.332T>C NP_001394582.1:p.Leu111Pro missense NM_001407654.1:c.332T>C NP_001394583.1:p.Leu111Pro missense NM_001407655.1:c.332T>C NP_001394584.1:p.Leu111Pro missense NM_001407656.1:c.332T>C NP_001394585.1:p.Leu111Pro missense NM_001407657.1:c.332T>C NP_001394586.1:p.Leu111Pro missense NM_001407658.1:c.332T>C NP_001394587.1:p.Leu111Pro missense NM_001407659.1:c.332T>C NP_001394588.1:p.Leu111Pro missense NM_001407660.1:c.332T>C NP_001394589.1:p.Leu111Pro missense NM_001407661.1:c.332T>C NP_001394590.1:p.Leu111Pro missense NM_001407662.1:c.332T>C NP_001394591.1:p.Leu111Pro missense NM_001407663.1:c.332T>C NP_001394592.1:p.Leu111Pro missense NM_001407664.1:c.410T>C NP_001394593.1:p.Leu137Pro missense NM_001407665.1:c.410T>C NP_001394594.1:p.Leu137Pro missense NM_001407666.1:c.410T>C NP_001394595.1:p.Leu137Pro missense NM_001407667.1:c.410T>C NP_001394596.1:p.Leu137Pro missense NM_001407668.1:c.410T>C NP_001394597.1:p.Leu137Pro missense NM_001407669.1:c.410T>C NP_001394598.1:p.Leu137Pro missense NM_001407670.1:c.410T>C NP_001394599.1:p.Leu137Pro missense NM_001407671.1:c.410T>C NP_001394600.1:p.Leu137Pro missense NM_001407672.1:c.410T>C NP_001394601.1:p.Leu137Pro missense NM_001407673.1:c.410T>C NP_001394602.1:p.Leu137Pro missense NM_001407674.1:c.410T>C NP_001394603.1:p.Leu137Pro missense NM_001407675.1:c.410T>C NP_001394604.1:p.Leu137Pro missense NM_001407676.1:c.410T>C NP_001394605.1:p.Leu137Pro missense NM_001407677.1:c.410T>C NP_001394606.1:p.Leu137Pro missense NM_001407678.1:c.410T>C NP_001394607.1:p.Leu137Pro missense NM_001407679.1:c.410T>C NP_001394608.1:p.Leu137Pro missense NM_001407680.1:c.410T>C NP_001394609.1:p.Leu137Pro missense NM_001407681.1:c.410T>C NP_001394610.1:p.Leu137Pro missense NM_001407682.1:c.410T>C NP_001394611.1:p.Leu137Pro missense NM_001407683.1:c.410T>C NP_001394612.1:p.Leu137Pro missense NM_001407684.1:c.410T>C NP_001394613.1:p.Leu137Pro missense NM_001407685.1:c.410T>C NP_001394614.1:p.Leu137Pro missense NM_001407686.1:c.410T>C NP_001394615.1:p.Leu137Pro missense NM_001407687.1:c.410T>C NP_001394616.1:p.Leu137Pro missense NM_001407688.1:c.410T>C NP_001394617.1:p.Leu137Pro missense NM_001407689.1:c.410T>C NP_001394618.1:p.Leu137Pro missense NM_001407690.1:c.410T>C NP_001394619.1:p.Leu137Pro missense NM_001407691.1:c.410T>C NP_001394620.1:p.Leu137Pro missense NM_001407692.1:c.269T>C NP_001394621.1:p.Leu90Pro missense NM_001407694.1:c.269T>C NP_001394623.1:p.Leu90Pro missense NM_001407695.1:c.269T>C NP_001394624.1:p.Leu90Pro missense NM_001407696.1:c.269T>C NP_001394625.1:p.Leu90Pro missense NM_001407697.1:c.269T>C NP_001394626.1:p.Leu90Pro missense NM_001407698.1:c.269T>C NP_001394627.1:p.Leu90Pro missense NM_001407724.1:c.269T>C NP_001394653.1:p.Leu90Pro missense NM_001407725.1:c.269T>C NP_001394654.1:p.Leu90Pro missense NM_001407726.1:c.269T>C NP_001394655.1:p.Leu90Pro missense NM_001407727.1:c.269T>C NP_001394656.1:p.Leu90Pro missense NM_001407728.1:c.269T>C NP_001394657.1:p.Leu90Pro missense NM_001407729.1:c.269T>C NP_001394658.1:p.Leu90Pro missense NM_001407730.1:c.269T>C NP_001394659.1:p.Leu90Pro missense NM_001407731.1:c.269T>C NP_001394660.1:p.Leu90Pro missense NM_001407732.1:c.269T>C NP_001394661.1:p.Leu90Pro missense NM_001407733.1:c.269T>C NP_001394662.1:p.Leu90Pro missense NM_001407734.1:c.269T>C NP_001394663.1:p.Leu90Pro missense NM_001407735.1:c.269T>C NP_001394664.1:p.Leu90Pro missense NM_001407736.1:c.269T>C NP_001394665.1:p.Leu90Pro missense NM_001407737.1:c.269T>C NP_001394666.1:p.Leu90Pro missense NM_001407738.1:c.269T>C NP_001394667.1:p.Leu90Pro missense NM_001407739.1:c.269T>C NP_001394668.1:p.Leu90Pro missense NM_001407740.1:c.269T>C NP_001394669.1:p.Leu90Pro missense NM_001407741.1:c.269T>C NP_001394670.1:p.Leu90Pro missense NM_001407742.1:c.269T>C NP_001394671.1:p.Leu90Pro missense NM_001407743.1:c.269T>C NP_001394672.1:p.Leu90Pro missense NM_001407744.1:c.269T>C NP_001394673.1:p.Leu90Pro missense NM_001407745.1:c.269T>C NP_001394674.1:p.Leu90Pro missense NM_001407746.1:c.269T>C NP_001394675.1:p.Leu90Pro missense NM_001407747.1:c.269T>C NP_001394676.1:p.Leu90Pro missense NM_001407748.1:c.269T>C NP_001394677.1:p.Leu90Pro missense NM_001407749.1:c.269T>C NP_001394678.1:p.Leu90Pro missense NM_001407750.1:c.269T>C NP_001394679.1:p.Leu90Pro missense NM_001407751.1:c.269T>C NP_001394680.1:p.Leu90Pro missense NM_001407752.1:c.269T>C NP_001394681.1:p.Leu90Pro missense NM_001407838.1:c.269T>C NP_001394767.1:p.Leu90Pro missense NM_001407839.1:c.269T>C NP_001394768.1:p.Leu90Pro missense NM_001407841.1:c.269T>C NP_001394770.1:p.Leu90Pro missense NM_001407842.1:c.269T>C NP_001394771.1:p.Leu90Pro missense NM_001407843.1:c.269T>C NP_001394772.1:p.Leu90Pro missense NM_001407844.1:c.269T>C NP_001394773.1:p.Leu90Pro missense NM_001407845.1:c.269T>C NP_001394774.1:p.Leu90Pro missense NM_001407846.1:c.269T>C NP_001394775.1:p.Leu90Pro missense NM_001407847.1:c.269T>C NP_001394776.1:p.Leu90Pro missense NM_001407848.1:c.269T>C NP_001394777.1:p.Leu90Pro missense NM_001407849.1:c.269T>C NP_001394778.1:p.Leu90Pro missense NM_001407850.1:c.269T>C NP_001394779.1:p.Leu90Pro missense NM_001407851.1:c.269T>C NP_001394780.1:p.Leu90Pro missense NM_001407852.1:c.269T>C NP_001394781.1:p.Leu90Pro missense NM_001407853.1:c.200T>C NP_001394782.1:p.Leu67Pro missense NM_001407854.1:c.410T>C NP_001394783.1:p.Leu137Pro missense NM_001407858.1:c.410T>C NP_001394787.1:p.Leu137Pro missense NM_001407859.1:c.410T>C NP_001394788.1:p.Leu137Pro missense NM_001407860.1:c.410T>C NP_001394789.1:p.Leu137Pro missense NM_001407861.1:c.410T>C NP_001394790.1:p.Leu137Pro missense NM_001407862.1:c.332T>C NP_001394791.1:p.Leu111Pro missense NM_001407863.1:c.410T>C NP_001394792.1:p.Leu137Pro missense NM_001407874.1:c.332T>C NP_001394803.1:p.Leu111Pro missense NM_001407875.1:c.332T>C NP_001394804.1:p.Leu111Pro missense NM_001407879.1:c.200T>C NP_001394808.1:p.Leu67Pro missense NM_001407881.1:c.200T>C NP_001394810.1:p.Leu67Pro missense NM_001407882.1:c.200T>C NP_001394811.1:p.Leu67Pro missense NM_001407884.1:c.200T>C NP_001394813.1:p.Leu67Pro missense NM_001407885.1:c.200T>C NP_001394814.1:p.Leu67Pro missense NM_001407886.1:c.200T>C NP_001394815.1:p.Leu67Pro missense NM_001407887.1:c.200T>C NP_001394816.1:p.Leu67Pro missense NM_001407889.1:c.200T>C NP_001394818.1:p.Leu67Pro missense NM_001407894.1:c.200T>C NP_001394823.1:p.Leu67Pro missense NM_001407895.1:c.200T>C NP_001394824.1:p.Leu67Pro missense NM_001407896.1:c.200T>C NP_001394825.1:p.Leu67Pro missense NM_001407897.1:c.200T>C NP_001394826.1:p.Leu67Pro missense NM_001407898.1:c.200T>C NP_001394827.1:p.Leu67Pro missense NM_001407899.1:c.200T>C NP_001394828.1:p.Leu67Pro missense NM_001407900.1:c.200T>C NP_001394829.1:p.Leu67Pro missense NM_001407902.1:c.200T>C NP_001394831.1:p.Leu67Pro missense NM_001407904.1:c.200T>C NP_001394833.1:p.Leu67Pro missense NM_001407906.1:c.200T>C NP_001394835.1:p.Leu67Pro missense NM_001407907.1:c.200T>C NP_001394836.1:p.Leu67Pro missense NM_001407908.1:c.200T>C NP_001394837.1:p.Leu67Pro missense NM_001407909.1:c.200T>C NP_001394838.1:p.Leu67Pro missense NM_001407910.1:c.200T>C NP_001394839.1:p.Leu67Pro missense NM_001407915.1:c.200T>C NP_001394844.1:p.Leu67Pro missense NM_001407916.1:c.200T>C NP_001394845.1:p.Leu67Pro missense NM_001407917.1:c.200T>C NP_001394846.1:p.Leu67Pro missense NM_001407918.1:c.200T>C NP_001394847.1:p.Leu67Pro missense NM_001407919.1:c.410T>C NP_001394848.1:p.Leu137Pro missense NM_001407920.1:c.269T>C NP_001394849.1:p.Leu90Pro missense NM_001407921.1:c.269T>C NP_001394850.1:p.Leu90Pro missense NM_001407922.1:c.269T>C NP_001394851.1:p.Leu90Pro missense NM_001407923.1:c.269T>C NP_001394852.1:p.Leu90Pro missense NM_001407924.1:c.269T>C NP_001394853.1:p.Leu90Pro missense NM_001407925.1:c.269T>C NP_001394854.1:p.Leu90Pro missense NM_001407926.1:c.269T>C NP_001394855.1:p.Leu90Pro missense NM_001407927.1:c.269T>C NP_001394856.1:p.Leu90Pro missense NM_001407928.1:c.269T>C NP_001394857.1:p.Leu90Pro missense NM_001407929.1:c.269T>C NP_001394858.1:p.Leu90Pro missense NM_001407930.1:c.269T>C NP_001394859.1:p.Leu90Pro missense NM_001407931.1:c.269T>C NP_001394860.1:p.Leu90Pro missense NM_001407932.1:c.269T>C NP_001394861.1:p.Leu90Pro missense NM_001407933.1:c.269T>C NP_001394862.1:p.Leu90Pro missense NM_001407934.1:c.269T>C NP_001394863.1:p.Leu90Pro missense NM_001407935.1:c.269T>C NP_001394864.1:p.Leu90Pro missense NM_001407936.1:c.269T>C NP_001394865.1:p.Leu90Pro missense NM_001407937.1:c.410T>C NP_001394866.1:p.Leu137Pro missense NM_001407938.1:c.410T>C NP_001394867.1:p.Leu137Pro missense NM_001407939.1:c.410T>C NP_001394868.1:p.Leu137Pro missense NM_001407940.1:c.410T>C NP_001394869.1:p.Leu137Pro missense NM_001407941.1:c.410T>C NP_001394870.1:p.Leu137Pro missense NM_001407942.1:c.269T>C NP_001394871.1:p.Leu90Pro missense NM_001407943.1:c.269T>C NP_001394872.1:p.Leu90Pro missense NM_001407944.1:c.269T>C NP_001394873.1:p.Leu90Pro missense NM_001407945.1:c.269T>C NP_001394874.1:p.Leu90Pro missense NM_001407946.1:c.200T>C NP_001394875.1:p.Leu67Pro missense NM_001407947.1:c.200T>C NP_001394876.1:p.Leu67Pro missense NM_001407948.1:c.200T>C NP_001394877.1:p.Leu67Pro missense NM_001407949.1:c.200T>C NP_001394878.1:p.Leu67Pro missense NM_001407950.1:c.200T>C NP_001394879.1:p.Leu67Pro missense NM_001407951.1:c.200T>C NP_001394880.1:p.Leu67Pro missense NM_001407952.1:c.200T>C NP_001394881.1:p.Leu67Pro missense NM_001407953.1:c.200T>C NP_001394882.1:p.Leu67Pro missense NM_001407954.1:c.200T>C NP_001394883.1:p.Leu67Pro missense NM_001407955.1:c.200T>C NP_001394884.1:p.Leu67Pro missense NM_001407956.1:c.200T>C NP_001394885.1:p.Leu67Pro missense NM_001407957.1:c.200T>C NP_001394886.1:p.Leu67Pro missense NM_001407958.1:c.200T>C NP_001394887.1:p.Leu67Pro missense NM_001407959.1:c.29T>C NP_001394888.1:p.Leu10Pro missense NM_001407960.1:c.29T>C NP_001394889.1:p.Leu10Pro missense NM_001407962.1:c.29T>C NP_001394891.1:p.Leu10Pro missense NM_001407963.1:c.29T>C NP_001394892.1:p.Leu10Pro missense NM_001407964.1:c.269T>C NP_001394893.1:p.Leu90Pro missense NM_001407965.1:c.29T>C NP_001394894.1:p.Leu10Pro missense NM_001407968.1:c.410T>C NP_001394897.1:p.Leu137Pro missense NM_001407969.1:c.410T>C NP_001394898.1:p.Leu137Pro missense NM_001407970.1:c.410T>C NP_001394899.1:p.Leu137Pro missense NM_001407971.1:c.410T>C NP_001394900.1:p.Leu137Pro missense NM_001407972.1:c.410T>C NP_001394901.1:p.Leu137Pro missense NM_001407973.1:c.410T>C NP_001394902.1:p.Leu137Pro missense NM_001407974.1:c.410T>C NP_001394903.1:p.Leu137Pro missense NM_001407975.1:c.410T>C NP_001394904.1:p.Leu137Pro missense NM_001407976.1:c.410T>C NP_001394905.1:p.Leu137Pro missense NM_001407977.1:c.410T>C NP_001394906.1:p.Leu137Pro missense NM_001407978.1:c.410T>C NP_001394907.1:p.Leu137Pro missense NM_001407979.1:c.410T>C NP_001394908.1:p.Leu137Pro missense NM_001407980.1:c.410T>C NP_001394909.1:p.Leu137Pro missense NM_001407981.1:c.410T>C NP_001394910.1:p.Leu137Pro missense NM_001407982.1:c.410T>C NP_001394911.1:p.Leu137Pro missense NM_001407983.1:c.410T>C NP_001394912.1:p.Leu137Pro missense NM_001407984.1:c.410T>C NP_001394913.1:p.Leu137Pro missense NM_001407985.1:c.410T>C NP_001394914.1:p.Leu137Pro missense NM_001407986.1:c.410T>C NP_001394915.1:p.Leu137Pro missense NM_001407990.1:c.410T>C NP_001394919.1:p.Leu137Pro missense NM_001407991.1:c.410T>C NP_001394920.1:p.Leu137Pro missense NM_001407992.1:c.410T>C NP_001394921.1:p.Leu137Pro missense NM_001407993.1:c.410T>C NP_001394922.1:p.Leu137Pro missense NM_001408392.1:c.410T>C NP_001395321.1:p.Leu137Pro missense NM_001408396.1:c.410T>C NP_001395325.1:p.Leu137Pro missense NM_001408397.1:c.410T>C NP_001395326.1:p.Leu137Pro missense NM_001408398.1:c.410T>C NP_001395327.1:p.Leu137Pro missense NM_001408399.1:c.410T>C NP_001395328.1:p.Leu137Pro missense NM_001408400.1:c.410T>C NP_001395329.1:p.Leu137Pro missense NM_001408401.1:c.410T>C NP_001395330.1:p.Leu137Pro missense NM_001408402.1:c.410T>C NP_001395331.1:p.Leu137Pro missense NM_001408403.1:c.410T>C NP_001395332.1:p.Leu137Pro missense NM_001408404.1:c.410T>C NP_001395333.1:p.Leu137Pro missense NM_001408406.1:c.410T>C NP_001395335.1:p.Leu137Pro missense NM_001408407.1:c.410T>C NP_001395336.1:p.Leu137Pro missense NM_001408408.1:c.401T>C NP_001395337.1:p.Leu134Pro missense NM_001408409.1:c.332T>C NP_001395338.1:p.Leu111Pro missense NM_001408410.1:c.269T>C NP_001395339.1:p.Leu90Pro missense NM_001408411.1:c.332T>C NP_001395340.1:p.Leu111Pro missense NM_001408412.1:c.332T>C NP_001395341.1:p.Leu111Pro missense NM_001408413.1:c.332T>C NP_001395342.1:p.Leu111Pro missense NM_001408414.1:c.332T>C NP_001395343.1:p.Leu111Pro missense NM_001408415.1:c.332T>C NP_001395344.1:p.Leu111Pro missense NM_001408416.1:c.332T>C NP_001395345.1:p.Leu111Pro missense NM_001408418.1:c.410T>C NP_001395347.1:p.Leu137Pro missense NM_001408419.1:c.410T>C NP_001395348.1:p.Leu137Pro missense NM_001408420.1:c.410T>C NP_001395349.1:p.Leu137Pro missense NM_001408421.1:c.410T>C NP_001395350.1:p.Leu137Pro missense NM_001408422.1:c.410T>C NP_001395351.1:p.Leu137Pro missense NM_001408423.1:c.410T>C NP_001395352.1:p.Leu137Pro missense NM_001408424.1:c.410T>C NP_001395353.1:p.Leu137Pro missense NM_001408425.1:c.410T>C NP_001395354.1:p.Leu137Pro missense NM_001408426.1:c.410T>C NP_001395355.1:p.Leu137Pro missense NM_001408427.1:c.410T>C NP_001395356.1:p.Leu137Pro missense NM_001408428.1:c.410T>C NP_001395357.1:p.Leu137Pro missense NM_001408429.1:c.410T>C NP_001395358.1:p.Leu137Pro missense NM_001408430.1:c.410T>C NP_001395359.1:p.Leu137Pro missense NM_001408431.1:c.410T>C NP_001395360.1:p.Leu137Pro missense NM_001408432.1:c.410T>C NP_001395361.1:p.Leu137Pro missense NM_001408433.1:c.410T>C NP_001395362.1:p.Leu137Pro missense NM_001408434.1:c.410T>C NP_001395363.1:p.Leu137Pro missense NM_001408435.1:c.410T>C NP_001395364.1:p.Leu137Pro missense NM_001408436.1:c.410T>C NP_001395365.1:p.Leu137Pro missense NM_001408437.1:c.410T>C NP_001395366.1:p.Leu137Pro missense NM_001408438.1:c.410T>C NP_001395367.1:p.Leu137Pro missense NM_001408439.1:c.410T>C NP_001395368.1:p.Leu137Pro missense NM_001408440.1:c.410T>C NP_001395369.1:p.Leu137Pro missense NM_001408441.1:c.410T>C NP_001395370.1:p.Leu137Pro missense NM_001408442.1:c.410T>C NP_001395371.1:p.Leu137Pro missense NM_001408443.1:c.410T>C NP_001395372.1:p.Leu137Pro missense NM_001408444.1:c.410T>C NP_001395373.1:p.Leu137Pro missense NM_001408445.1:c.410T>C NP_001395374.1:p.Leu137Pro missense NM_001408446.1:c.410T>C NP_001395375.1:p.Leu137Pro missense NM_001408447.1:c.410T>C NP_001395376.1:p.Leu137Pro missense NM_001408448.1:c.410T>C NP_001395377.1:p.Leu137Pro missense NM_001408450.1:c.410T>C NP_001395379.1:p.Leu137Pro missense NM_001408451.1:c.278T>C NP_001395380.1:p.Leu93Pro missense NM_001408452.1:c.269T>C NP_001395381.1:p.Leu90Pro missense NM_001408453.1:c.269T>C NP_001395382.1:p.Leu90Pro missense NM_001408454.1:c.269T>C NP_001395383.1:p.Leu90Pro missense NM_001408455.1:c.269T>C NP_001395384.1:p.Leu90Pro missense NM_001408456.1:c.269T>C NP_001395385.1:p.Leu90Pro missense NM_001408457.1:c.269T>C NP_001395386.1:p.Leu90Pro missense NM_001408458.1:c.269T>C NP_001395387.1:p.Leu90Pro missense NM_001408459.1:c.269T>C NP_001395388.1:p.Leu90Pro missense NM_001408460.1:c.269T>C NP_001395389.1:p.Leu90Pro missense NM_001408461.1:c.269T>C NP_001395390.1:p.Leu90Pro missense NM_001408462.1:c.269T>C NP_001395391.1:p.Leu90Pro missense NM_001408463.1:c.269T>C NP_001395392.1:p.Leu90Pro missense NM_001408464.1:c.269T>C NP_001395393.1:p.Leu90Pro missense NM_001408465.1:c.269T>C NP_001395394.1:p.Leu90Pro missense NM_001408466.1:c.269T>C NP_001395395.1:p.Leu90Pro missense NM_001408467.1:c.269T>C NP_001395396.1:p.Leu90Pro missense NM_001408468.1:c.269T>C NP_001395397.1:p.Leu90Pro missense NM_001408469.1:c.269T>C NP_001395398.1:p.Leu90Pro missense NM_001408470.1:c.269T>C NP_001395399.1:p.Leu90Pro missense NM_001408472.1:c.410T>C NP_001395401.1:p.Leu137Pro missense NM_001408473.1:c.410T>C NP_001395402.1:p.Leu137Pro missense NM_001408474.1:c.332T>C NP_001395403.1:p.Leu111Pro missense NM_001408475.1:c.332T>C NP_001395404.1:p.Leu111Pro missense NM_001408476.1:c.332T>C NP_001395405.1:p.Leu111Pro missense NM_001408478.1:c.200T>C NP_001395407.1:p.Leu67Pro missense NM_001408479.1:c.200T>C NP_001395408.1:p.Leu67Pro missense NM_001408480.1:c.200T>C NP_001395409.1:p.Leu67Pro missense NM_001408481.1:c.200T>C NP_001395410.1:p.Leu67Pro missense NM_001408482.1:c.200T>C NP_001395411.1:p.Leu67Pro missense NM_001408483.1:c.200T>C NP_001395412.1:p.Leu67Pro missense NM_001408484.1:c.200T>C NP_001395413.1:p.Leu67Pro missense NM_001408485.1:c.200T>C NP_001395414.1:p.Leu67Pro missense NM_001408489.1:c.200T>C NP_001395418.1:p.Leu67Pro missense NM_001408490.1:c.200T>C NP_001395419.1:p.Leu67Pro missense NM_001408491.1:c.200T>C NP_001395420.1:p.Leu67Pro missense NM_001408492.1:c.200T>C NP_001395421.1:p.Leu67Pro missense NM_001408493.1:c.200T>C NP_001395422.1:p.Leu67Pro missense NM_001408494.1:c.410T>C NP_001395423.1:p.Leu137Pro missense NM_001408495.1:c.410T>C NP_001395424.1:p.Leu137Pro missense NM_001408496.1:c.269T>C NP_001395425.1:p.Leu90Pro missense NM_001408497.1:c.269T>C NP_001395426.1:p.Leu90Pro missense NM_001408498.1:c.269T>C NP_001395427.1:p.Leu90Pro missense NM_001408499.1:c.269T>C NP_001395428.1:p.Leu90Pro missense NM_001408500.1:c.269T>C NP_001395429.1:p.Leu90Pro missense NM_001408501.1:c.269T>C NP_001395430.1:p.Leu90Pro missense NM_001408502.1:c.200T>C NP_001395431.1:p.Leu67Pro missense NM_001408503.1:c.269T>C NP_001395432.1:p.Leu90Pro missense NM_001408504.1:c.269T>C NP_001395433.1:p.Leu90Pro missense NM_001408505.1:c.269T>C NP_001395434.1:p.Leu90Pro missense NM_001408506.1:c.200T>C NP_001395435.1:p.Leu67Pro missense NM_001408507.1:c.200T>C NP_001395436.1:p.Leu67Pro missense NM_001408508.1:c.200T>C NP_001395437.1:p.Leu67Pro missense NM_001408509.1:c.200T>C NP_001395438.1:p.Leu67Pro missense NM_001408510.1:c.29T>C NP_001395439.1:p.Leu10Pro missense NM_001408511.1:c.269T>C NP_001395440.1:p.Leu90Pro missense NM_001408512.1:c.29T>C NP_001395441.1:p.Leu10Pro missense NM_001408513.1:c.200T>C NP_001395442.1:p.Leu67Pro missense NM_001408514.1:c.200T>C NP_001395443.1:p.Leu67Pro missense NM_007297.4:c.269T>C NP_009228.2:p.Leu90Pro missense NM_007298.4:c.410T>C NP_009229.2:p.Leu137Pro missense NM_007299.4:c.410T>C NP_009230.2:p.Leu137Pro missense NM_007300.4:c.410T>C NP_009231.2:p.Leu137Pro missense NM_007304.2:c.410T>C NP_009235.2:p.Leu137Pro missense NR_027676.2:n.590T>C non-coding transcript variant NC_000017.11:g.43104153A>G NC_000017.10:g.41256170A>G NG_005905.2:g.113831T>C LRG_292:g.113831T>C LRG_292t1:c.410T>C LRG_292p1:p.Leu137Pro - Protein change
- L137P, L90P, L111P, L134P, L93P, L67P, L10P
- Other names
- -
- Canonical SPDI
- NC_000017.11:43104152:A: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.
-
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 |
12940 | 14730 |
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
|
Feb 19, 2015 | RCV000197893.6 |
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
(Feb 19, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000254982.4
First in ClinVar: Oct 11, 2015 Last updated: Feb 28, 2024 |
Comment:
Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change … (more)
Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant has not been published in the literature and is not present in population databases. This sequence change replaces leucine with proline at codon 137 of the BRCA1 protein (p.Leu137Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. (less)
|
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 rs751078452 ...
HelpRecord last updated Jul 15, 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.