ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)
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
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NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)
Variation ID: 55585 Accession: VCV000055585.29
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43047654 (GRCh38) [ NCBI UCSC ] 17: 41199671 (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 Jan 18, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5456A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1819Ser missense NM_001407571.1:c.5243A>G NP_001394500.1:p.Asn1748Ser missense NM_001407581.1:c.5522A>G NP_001394510.1:p.Asn1841Ser missense NM_001407582.1:c.5522A>G NP_001394511.1:p.Asn1841Ser missense NM_001407583.1:c.5519A>G NP_001394512.1:p.Asn1840Ser missense NM_001407585.1:c.5519A>G NP_001394514.1:p.Asn1840Ser missense NM_001407587.1:c.5519A>G NP_001394516.1:p.Asn1840Ser missense NM_001407590.1:c.5516A>G NP_001394519.1:p.Asn1839Ser missense NM_001407591.1:c.5516A>G NP_001394520.1:p.Asn1839Ser missense NM_001407593.1:c.5456A>G NP_001394522.1:p.Asn1819Ser missense NM_001407594.1:c.5456A>G NP_001394523.1:p.Asn1819Ser missense NM_001407596.1:c.5456A>G NP_001394525.1:p.Asn1819Ser missense NM_001407597.1:c.5456A>G NP_001394526.1:p.Asn1819Ser missense NM_001407598.1:c.5456A>G NP_001394527.1:p.Asn1819Ser missense NM_001407602.1:c.5456A>G NP_001394531.1:p.Asn1819Ser missense NM_001407603.1:c.5456A>G NP_001394532.1:p.Asn1819Ser missense NM_001407605.1:c.5456A>G NP_001394534.1:p.Asn1819Ser missense NM_001407610.1:c.5453A>G NP_001394539.1:p.Asn1818Ser missense NM_001407611.1:c.5453A>G NP_001394540.1:p.Asn1818Ser missense NM_001407612.1:c.5453A>G NP_001394541.1:p.Asn1818Ser missense NM_001407613.1:c.5453A>G NP_001394542.1:p.Asn1818Ser missense NM_001407614.1:c.5453A>G NP_001394543.1:p.Asn1818Ser missense NM_001407615.1:c.5453A>G NP_001394544.1:p.Asn1818Ser missense NM_001407616.1:c.5453A>G NP_001394545.1:p.Asn1818Ser missense NM_001407617.1:c.5453A>G NP_001394546.1:p.Asn1818Ser missense NM_001407618.1:c.5453A>G NP_001394547.1:p.Asn1818Ser missense NM_001407619.1:c.5453A>G NP_001394548.1:p.Asn1818Ser missense NM_001407620.1:c.5453A>G NP_001394549.1:p.Asn1818Ser missense NM_001407621.1:c.5453A>G NP_001394550.1:p.Asn1818Ser missense NM_001407622.1:c.5453A>G NP_001394551.1:p.Asn1818Ser missense NM_001407623.1:c.5453A>G NP_001394552.1:p.Asn1818Ser missense NM_001407624.1:c.5453A>G NP_001394553.1:p.Asn1818Ser missense NM_001407625.1:c.5453A>G NP_001394554.1:p.Asn1818Ser missense NM_001407626.1:c.5453A>G NP_001394555.1:p.Asn1818Ser missense NM_001407627.1:c.5450A>G NP_001394556.1:p.Asn1817Ser missense NM_001407628.1:c.5450A>G NP_001394557.1:p.Asn1817Ser missense NM_001407629.1:c.5450A>G NP_001394558.1:p.Asn1817Ser missense NM_001407630.1:c.5450A>G NP_001394559.1:p.Asn1817Ser missense NM_001407631.1:c.5450A>G NP_001394560.1:p.Asn1817Ser missense NM_001407632.1:c.5450A>G NP_001394561.1:p.Asn1817Ser missense NM_001407633.1:c.5450A>G NP_001394562.1:p.Asn1817Ser missense NM_001407634.1:c.5450A>G NP_001394563.1:p.Asn1817Ser missense NM_001407635.1:c.5450A>G NP_001394564.1:p.Asn1817Ser missense NM_001407636.1:c.5450A>G NP_001394565.1:p.Asn1817Ser missense NM_001407637.1:c.5450A>G NP_001394566.1:p.Asn1817Ser missense NM_001407638.1:c.5450A>G NP_001394567.1:p.Asn1817Ser missense NM_001407639.1:c.5450A>G NP_001394568.1:p.Asn1817Ser missense NM_001407640.1:c.5450A>G NP_001394569.1:p.Asn1817Ser missense NM_001407641.1:c.5450A>G NP_001394570.1:p.Asn1817Ser missense NM_001407642.1:c.5450A>G NP_001394571.1:p.Asn1817Ser missense NM_001407644.1:c.5447A>G NP_001394573.1:p.Asn1816Ser missense NM_001407645.1:c.5447A>G NP_001394574.1:p.Asn1816Ser missense NM_001407646.1:c.5444A>G NP_001394575.1:p.Asn1815Ser missense NM_001407647.1:c.5441A>G NP_001394576.1:p.Asn1814Ser missense NM_001407648.1:c.5399A>G NP_001394577.1:p.Asn1800Ser missense NM_001407649.1:c.5396A>G NP_001394578.1:p.Asn1799Ser missense NM_001407652.1:c.5378A>G NP_001394581.1:p.Asn1793Ser missense NM_001407653.1:c.5378A>G NP_001394582.1:p.Asn1793Ser missense NM_001407654.1:c.5378A>G NP_001394583.1:p.Asn1793Ser missense NM_001407655.1:c.5378A>G NP_001394584.1:p.Asn1793Ser missense NM_001407656.1:c.5375A>G NP_001394585.1:p.Asn1792Ser missense NM_001407657.1:c.5375A>G NP_001394586.1:p.Asn1792Ser missense NM_001407658.1:c.5375A>G NP_001394587.1:p.Asn1792Ser missense NM_001407659.1:c.5372A>G NP_001394588.1:p.Asn1791Ser missense NM_001407660.1:c.5372A>G NP_001394589.1:p.Asn1791Ser missense NM_001407661.1:c.5372A>G NP_001394590.1:p.Asn1791Ser missense NM_001407662.1:c.5372A>G NP_001394591.1:p.Asn1791Ser missense NM_001407663.1:c.5372A>G NP_001394592.1:p.Asn1791Ser missense NM_001407664.1:c.5333A>G NP_001394593.1:p.Asn1778Ser missense NM_001407665.1:c.5333A>G NP_001394594.1:p.Asn1778Ser missense NM_001407666.1:c.5333A>G NP_001394595.1:p.Asn1778Ser missense NM_001407667.1:c.5333A>G NP_001394596.1:p.Asn1778Ser missense NM_001407668.1:c.5333A>G NP_001394597.1:p.Asn1778Ser missense NM_001407669.1:c.5333A>G NP_001394598.1:p.Asn1778Ser missense NM_001407670.1:c.5330A>G NP_001394599.1:p.Asn1777Ser missense NM_001407671.1:c.5330A>G NP_001394600.1:p.Asn1777Ser missense NM_001407672.1:c.5330A>G NP_001394601.1:p.Asn1777Ser missense NM_001407673.1:c.5330A>G NP_001394602.1:p.Asn1777Ser missense NM_001407674.1:c.5330A>G NP_001394603.1:p.Asn1777Ser missense NM_001407675.1:c.5330A>G NP_001394604.1:p.Asn1777Ser missense NM_001407676.1:c.5330A>G NP_001394605.1:p.Asn1777Ser missense NM_001407677.1:c.5330A>G NP_001394606.1:p.Asn1777Ser missense NM_001407678.1:c.5330A>G NP_001394607.1:p.Asn1777Ser missense NM_001407679.1:c.5330A>G NP_001394608.1:p.Asn1777Ser missense NM_001407680.1:c.5330A>G NP_001394609.1:p.Asn1777Ser missense NM_001407681.1:c.5327A>G NP_001394610.1:p.Asn1776Ser missense NM_001407682.1:c.5327A>G NP_001394611.1:p.Asn1776Ser missense NM_001407683.1:c.5327A>G NP_001394612.1:p.Asn1776Ser missense NM_001407684.1:c.5327A>G NP_001394613.1:p.Asn1776Ser missense NM_001407685.1:c.5327A>G NP_001394614.1:p.Asn1776Ser missense NM_001407686.1:c.5327A>G NP_001394615.1:p.Asn1776Ser missense NM_001407687.1:c.5327A>G NP_001394616.1:p.Asn1776Ser missense NM_001407688.1:c.5327A>G NP_001394617.1:p.Asn1776Ser missense NM_001407689.1:c.5327A>G NP_001394618.1:p.Asn1776Ser missense NM_001407690.1:c.5324A>G NP_001394619.1:p.Asn1775Ser missense NM_001407691.1:c.5324A>G NP_001394620.1:p.Asn1775Ser missense NM_001407692.1:c.5315A>G NP_001394621.1:p.Asn1772Ser missense NM_001407694.1:c.5315A>G NP_001394623.1:p.Asn1772Ser missense NM_001407695.1:c.5315A>G NP_001394624.1:p.Asn1772Ser missense NM_001407696.1:c.5315A>G NP_001394625.1:p.Asn1772Ser missense NM_001407697.1:c.5315A>G NP_001394626.1:p.Asn1772Ser missense NM_001407698.1:c.5315A>G NP_001394627.1:p.Asn1772Ser missense NM_001407724.1:c.5315A>G NP_001394653.1:p.Asn1772Ser missense NM_001407725.1:c.5315A>G NP_001394654.1:p.Asn1772Ser missense NM_001407726.1:c.5315A>G NP_001394655.1:p.Asn1772Ser missense NM_001407727.1:c.5315A>G NP_001394656.1:p.Asn1772Ser missense NM_001407728.1:c.5315A>G NP_001394657.1:p.Asn1772Ser missense NM_001407729.1:c.5315A>G NP_001394658.1:p.Asn1772Ser missense NM_001407730.1:c.5315A>G NP_001394659.1:p.Asn1772Ser missense NM_001407731.1:c.5315A>G NP_001394660.1:p.Asn1772Ser missense NM_001407732.1:c.5312A>G NP_001394661.1:p.Asn1771Ser missense NM_001407733.1:c.5312A>G NP_001394662.1:p.Asn1771Ser missense NM_001407734.1:c.5312A>G NP_001394663.1:p.Asn1771Ser missense NM_001407735.1:c.5312A>G NP_001394664.1:p.Asn1771Ser missense NM_001407736.1:c.5312A>G NP_001394665.1:p.Asn1771Ser missense NM_001407737.1:c.5312A>G NP_001394666.1:p.Asn1771Ser missense NM_001407738.1:c.5312A>G NP_001394667.1:p.Asn1771Ser missense NM_001407739.1:c.5312A>G NP_001394668.1:p.Asn1771Ser missense NM_001407740.1:c.5312A>G NP_001394669.1:p.Asn1771Ser missense NM_001407741.1:c.5312A>G NP_001394670.1:p.Asn1771Ser missense NM_001407742.1:c.5312A>G NP_001394671.1:p.Asn1771Ser missense NM_001407743.1:c.5312A>G NP_001394672.1:p.Asn1771Ser missense NM_001407744.1:c.5312A>G NP_001394673.1:p.Asn1771Ser missense NM_001407745.1:c.5312A>G NP_001394674.1:p.Asn1771Ser missense NM_001407746.1:c.5312A>G NP_001394675.1:p.Asn1771Ser missense NM_001407747.1:c.5312A>G NP_001394676.1:p.Asn1771Ser missense NM_001407748.1:c.5312A>G NP_001394677.1:p.Asn1771Ser missense NM_001407749.1:c.5312A>G NP_001394678.1:p.Asn1771Ser missense NM_001407750.1:c.5312A>G NP_001394679.1:p.Asn1771Ser missense NM_001407751.1:c.5312A>G NP_001394680.1:p.Asn1771Ser missense NM_001407752.1:c.5312A>G NP_001394681.1:p.Asn1771Ser missense NM_001407838.1:c.5309A>G NP_001394767.1:p.Asn1770Ser missense NM_001407839.1:c.5309A>G NP_001394768.1:p.Asn1770Ser missense NM_001407841.1:c.5309A>G NP_001394770.1:p.Asn1770Ser missense NM_001407842.1:c.5309A>G NP_001394771.1:p.Asn1770Ser missense NM_001407843.1:c.5309A>G NP_001394772.1:p.Asn1770Ser missense NM_001407844.1:c.5309A>G NP_001394773.1:p.Asn1770Ser missense NM_001407845.1:c.5309A>G NP_001394774.1:p.Asn1770Ser missense NM_001407846.1:c.5309A>G NP_001394775.1:p.Asn1770Ser missense NM_001407847.1:c.5309A>G NP_001394776.1:p.Asn1770Ser missense NM_001407848.1:c.5309A>G NP_001394777.1:p.Asn1770Ser missense NM_001407849.1:c.5309A>G NP_001394778.1:p.Asn1770Ser missense NM_001407850.1:c.5309A>G NP_001394779.1:p.Asn1770Ser missense NM_001407851.1:c.5309A>G NP_001394780.1:p.Asn1770Ser missense NM_001407852.1:c.5309A>G NP_001394781.1:p.Asn1770Ser missense NM_001407853.1:c.5309A>G NP_001394782.1:p.Asn1770Ser missense NM_001407854.1:c.5382A>G NP_001394783.1:p.Gln1794= synonymous NM_001407858.1:c.5379A>G NP_001394787.1:p.Gln1793= synonymous NM_001407859.1:c.5379A>G NP_001394788.1:p.Gln1793= synonymous NM_001407860.1:c.5379A>G NP_001394789.1:p.Gln1793= synonymous NM_001407861.1:c.5376A>G NP_001394790.1:p.Gln1792= synonymous NM_001407862.1:c.5255A>G NP_001394791.1:p.Asn1752Ser missense NM_001407863.1:c.5252A>G NP_001394792.1:p.Asn1751Ser missense NM_001407874.1:c.5249A>G NP_001394803.1:p.Asn1750Ser missense NM_001407875.1:c.5249A>G NP_001394804.1:p.Asn1750Ser missense NM_001407879.1:c.5246A>G NP_001394808.1:p.Asn1749Ser missense NM_001407881.1:c.5246A>G NP_001394810.1:p.Asn1749Ser missense NM_001407882.1:c.5246A>G NP_001394811.1:p.Asn1749Ser missense NM_001407884.1:c.5246A>G NP_001394813.1:p.Asn1749Ser missense NM_001407885.1:c.5246A>G NP_001394814.1:p.Asn1749Ser missense NM_001407886.1:c.5246A>G NP_001394815.1:p.Asn1749Ser missense NM_001407887.1:c.5246A>G NP_001394816.1:p.Asn1749Ser missense NM_001407889.1:c.5246A>G NP_001394818.1:p.Asn1749Ser missense NM_001407894.1:c.5243A>G NP_001394823.1:p.Asn1748Ser missense NM_001407895.1:c.5243A>G NP_001394824.1:p.Asn1748Ser missense NM_001407896.1:c.5243A>G NP_001394825.1:p.Asn1748Ser missense NM_001407897.1:c.5243A>G NP_001394826.1:p.Asn1748Ser missense NM_001407898.1:c.5243A>G NP_001394827.1:p.Asn1748Ser missense NM_001407899.1:c.5243A>G NP_001394828.1:p.Asn1748Ser missense NM_001407900.1:c.5243A>G NP_001394829.1:p.Asn1748Ser missense NM_001407902.1:c.5243A>G NP_001394831.1:p.Asn1748Ser missense NM_001407904.1:c.5243A>G NP_001394833.1:p.Asn1748Ser missense NM_001407906.1:c.5243A>G NP_001394835.1:p.Asn1748Ser missense NM_001407907.1:c.5243A>G NP_001394836.1:p.Asn1748Ser missense NM_001407908.1:c.5243A>G NP_001394837.1:p.Asn1748Ser missense NM_001407909.1:c.5243A>G NP_001394838.1:p.Asn1748Ser missense NM_001407910.1:c.5243A>G NP_001394839.1:p.Asn1748Ser missense NM_001407915.1:c.5240A>G NP_001394844.1:p.Asn1747Ser missense NM_001407916.1:c.5240A>G NP_001394845.1:p.Asn1747Ser missense NM_001407917.1:c.5240A>G NP_001394846.1:p.Asn1747Ser missense NM_001407918.1:c.5240A>G NP_001394847.1:p.Asn1747Ser missense NM_001407919.1:c.5204A>G NP_001394848.1:p.Asn1735Ser missense NM_001407920.1:c.5192A>G NP_001394849.1:p.Asn1731Ser missense NM_001407921.1:c.5192A>G NP_001394850.1:p.Asn1731Ser missense NM_001407922.1:c.5192A>G NP_001394851.1:p.Asn1731Ser missense NM_001407923.1:c.5192A>G NP_001394852.1:p.Asn1731Ser missense NM_001407924.1:c.5192A>G NP_001394853.1:p.Asn1731Ser missense NM_001407925.1:c.5192A>G NP_001394854.1:p.Asn1731Ser missense NM_001407926.1:c.5192A>G NP_001394855.1:p.Asn1731Ser missense NM_001407927.1:c.5189A>G NP_001394856.1:p.Asn1730Ser missense NM_001407928.1:c.5189A>G NP_001394857.1:p.Asn1730Ser missense NM_001407929.1:c.5189A>G NP_001394858.1:p.Asn1730Ser missense NM_001407930.1:c.5189A>G NP_001394859.1:p.Asn1730Ser missense NM_001407931.1:c.5189A>G NP_001394860.1:p.Asn1730Ser missense NM_001407932.1:c.5189A>G NP_001394861.1:p.Asn1730Ser missense NM_001407933.1:c.5189A>G NP_001394862.1:p.Asn1730Ser missense NM_001407934.1:c.5186A>G NP_001394863.1:p.Asn1729Ser missense NM_001407935.1:c.5186A>G NP_001394864.1:p.Asn1729Ser missense NM_001407936.1:c.5186A>G NP_001394865.1:p.Asn1729Ser missense NM_001407937.1:c.5259A>G NP_001394866.1:p.Gln1753= synonymous NM_001407938.1:c.5259A>G NP_001394867.1:p.Gln1753= synonymous NM_001407939.1:c.5256A>G NP_001394868.1:p.Gln1752= synonymous NM_001407940.1:c.5256A>G NP_001394869.1:p.Gln1752= synonymous NM_001407941.1:c.5253A>G NP_001394870.1:p.Gln1751= synonymous NM_001407942.1:c.5241A>G NP_001394871.1:p.Gln1747= synonymous NM_001407943.1:c.5238A>G NP_001394872.1:p.Gln1746= synonymous NM_001407944.1:c.5238A>G NP_001394873.1:p.Gln1746= synonymous NM_001407945.1:c.5238A>G NP_001394874.1:p.Gln1746= synonymous NM_001407946.1:c.5123A>G NP_001394875.1:p.Asn1708Ser missense NM_001407947.1:c.5123A>G NP_001394876.1:p.Asn1708Ser missense NM_001407948.1:c.5123A>G NP_001394877.1:p.Asn1708Ser missense NM_001407949.1:c.5123A>G NP_001394878.1:p.Asn1708Ser missense NM_001407950.1:c.5120A>G NP_001394879.1:p.Asn1707Ser missense NM_001407951.1:c.5120A>G NP_001394880.1:p.Asn1707Ser missense NM_001407952.1:c.5120A>G NP_001394881.1:p.Asn1707Ser missense NM_001407953.1:c.5120A>G NP_001394882.1:p.Asn1707Ser missense NM_001407954.1:c.5120A>G NP_001394883.1:p.Asn1707Ser missense NM_001407955.1:c.5120A>G NP_001394884.1:p.Asn1707Ser missense NM_001407956.1:c.5117A>G NP_001394885.1:p.Asn1706Ser missense NM_001407957.1:c.5117A>G NP_001394886.1:p.Asn1706Ser missense NM_001407958.1:c.5117A>G NP_001394887.1:p.Asn1706Ser missense NM_001407959.1:c.5075A>G NP_001394888.1:p.Asn1692Ser missense NM_001407960.1:c.5072A>G NP_001394889.1:p.Asn1691Ser missense NM_001407962.1:c.5072A>G NP_001394891.1:p.Asn1691Ser missense NM_001407963.1:c.5069A>G NP_001394892.1:p.Asn1690Ser missense NM_001407964.1:c.4994A>G NP_001394893.1:p.Asn1665Ser missense NM_001407965.1:c.4949A>G NP_001394894.1:p.Asn1650Ser missense NM_001407966.1:c.4568A>G NP_001394895.1:p.Asn1523Ser missense NM_001407967.1:c.4565A>G NP_001394896.1:p.Asn1522Ser missense NM_001407968.1:c.2852A>G NP_001394897.1:p.Asn951Ser missense NM_001407969.1:c.2849A>G NP_001394898.1:p.Asn950Ser missense NM_001407970.1:c.2213A>G NP_001394899.1:p.Asn738Ser missense NM_001407971.1:c.2213A>G NP_001394900.1:p.Asn738Ser missense NM_001407972.1:c.2210A>G NP_001394901.1:p.Asn737Ser missense NM_001407973.1:c.2147A>G NP_001394902.1:p.Asn716Ser missense NM_001407974.1:c.2147A>G NP_001394903.1:p.Asn716Ser missense NM_001407975.1:c.2147A>G NP_001394904.1:p.Asn716Ser missense NM_001407976.1:c.2147A>G NP_001394905.1:p.Asn716Ser missense NM_001407977.1:c.2147A>G NP_001394906.1:p.Asn716Ser missense NM_001407978.1:c.2147A>G NP_001394907.1:p.Asn716Ser missense NM_001407979.1:c.2144A>G NP_001394908.1:p.Asn715Ser missense NM_001407980.1:c.2144A>G NP_001394909.1:p.Asn715Ser missense NM_001407981.1:c.2144A>G NP_001394910.1:p.Asn715Ser missense NM_001407982.1:c.2144A>G NP_001394911.1:p.Asn715Ser missense NM_001407983.1:c.2144A>G NP_001394912.1:p.Asn715Ser missense NM_001407984.1:c.2144A>G NP_001394913.1:p.Asn715Ser missense NM_001407985.1:c.2144A>G NP_001394914.1:p.Asn715Ser missense NM_001407986.1:c.2144A>G NP_001394915.1:p.Asn715Ser missense NM_001407990.1:c.2144A>G NP_001394919.1:p.Asn715Ser missense NM_001407991.1:c.2144A>G NP_001394920.1:p.Asn715Ser missense NM_001407992.1:c.2144A>G NP_001394921.1:p.Asn715Ser missense NM_001407993.1:c.2144A>G NP_001394922.1:p.Asn715Ser missense NM_001408392.1:c.2141A>G NP_001395321.1:p.Asn714Ser missense NM_001408396.1:c.2141A>G NP_001395325.1:p.Asn714Ser missense NM_001408397.1:c.2141A>G NP_001395326.1:p.Asn714Ser missense NM_001408398.1:c.2141A>G NP_001395327.1:p.Asn714Ser missense NM_001408399.1:c.2141A>G NP_001395328.1:p.Asn714Ser missense NM_001408400.1:c.2141A>G NP_001395329.1:p.Asn714Ser missense NM_001408401.1:c.2141A>G NP_001395330.1:p.Asn714Ser missense NM_001408402.1:c.2141A>G NP_001395331.1:p.Asn714Ser missense NM_001408403.1:c.2141A>G NP_001395332.1:p.Asn714Ser missense NM_001408404.1:c.2141A>G NP_001395333.1:p.Asn714Ser missense NM_001408406.1:c.2138A>G NP_001395335.1:p.Asn713Ser missense NM_001408407.1:c.2138A>G NP_001395336.1:p.Asn713Ser missense NM_001408408.1:c.2138A>G NP_001395337.1:p.Asn713Ser missense NM_001408409.1:c.2135A>G NP_001395338.1:p.Asn712Ser missense NM_001408410.1:c.2072A>G NP_001395339.1:p.Asn691Ser missense NM_001408411.1:c.2069A>G NP_001395340.1:p.Asn690Ser missense NM_001408412.1:c.2066A>G NP_001395341.1:p.Asn689Ser missense NM_001408413.1:c.2066A>G NP_001395342.1:p.Asn689Ser missense NM_001408414.1:c.2066A>G NP_001395343.1:p.Asn689Ser missense NM_001408415.1:c.2066A>G NP_001395344.1:p.Asn689Ser missense NM_001408416.1:c.2066A>G NP_001395345.1:p.Asn689Ser missense NM_001408418.1:c.2030A>G NP_001395347.1:p.Asn677Ser missense NM_001408419.1:c.2030A>G NP_001395348.1:p.Asn677Ser missense NM_001408420.1:c.2030A>G NP_001395349.1:p.Asn677Ser missense NM_001408421.1:c.2027A>G NP_001395350.1:p.Asn676Ser missense NM_001408422.1:c.2027A>G NP_001395351.1:p.Asn676Ser missense NM_001408423.1:c.2027A>G NP_001395352.1:p.Asn676Ser missense NM_001408424.1:c.2027A>G NP_001395353.1:p.Asn676Ser missense NM_001408425.1:c.2024A>G NP_001395354.1:p.Asn675Ser missense NM_001408426.1:c.2024A>G NP_001395355.1:p.Asn675Ser missense NM_001408427.1:c.2024A>G NP_001395356.1:p.Asn675Ser missense NM_001408428.1:c.2024A>G NP_001395357.1:p.Asn675Ser missense NM_001408429.1:c.2024A>G NP_001395358.1:p.Asn675Ser missense NM_001408430.1:c.2024A>G NP_001395359.1:p.Asn675Ser missense NM_001408431.1:c.2024A>G NP_001395360.1:p.Asn675Ser missense NM_001408432.1:c.2021A>G NP_001395361.1:p.Asn674Ser missense NM_001408433.1:c.2021A>G NP_001395362.1:p.Asn674Ser missense NM_001408434.1:c.2021A>G NP_001395363.1:p.Asn674Ser missense NM_001408435.1:c.2021A>G NP_001395364.1:p.Asn674Ser missense NM_001408436.1:c.2021A>G NP_001395365.1:p.Asn674Ser missense NM_001408437.1:c.2021A>G NP_001395366.1:p.Asn674Ser missense NM_001408438.1:c.2021A>G NP_001395367.1:p.Asn674Ser missense NM_001408439.1:c.2021A>G NP_001395368.1:p.Asn674Ser missense NM_001408440.1:c.2021A>G NP_001395369.1:p.Asn674Ser missense NM_001408441.1:c.2021A>G NP_001395370.1:p.Asn674Ser missense NM_001408442.1:c.2021A>G NP_001395371.1:p.Asn674Ser missense NM_001408443.1:c.2021A>G NP_001395372.1:p.Asn674Ser missense NM_001408444.1:c.2021A>G NP_001395373.1:p.Asn674Ser missense NM_001408445.1:c.2018A>G NP_001395374.1:p.Asn673Ser missense NM_001408446.1:c.2018A>G NP_001395375.1:p.Asn673Ser missense NM_001408447.1:c.2018A>G NP_001395376.1:p.Asn673Ser missense NM_001408448.1:c.2018A>G NP_001395377.1:p.Asn673Ser missense NM_001408450.1:c.2018A>G NP_001395379.1:p.Asn673Ser missense NM_001408451.1:c.2012A>G NP_001395380.1:p.Asn671Ser missense NM_001408452.1:c.2006A>G NP_001395381.1:p.Asn669Ser missense NM_001408453.1:c.2006A>G NP_001395382.1:p.Asn669Ser missense NM_001408454.1:c.2006A>G NP_001395383.1:p.Asn669Ser missense NM_001408455.1:c.2006A>G NP_001395384.1:p.Asn669Ser missense NM_001408456.1:c.2006A>G NP_001395385.1:p.Asn669Ser missense NM_001408457.1:c.2006A>G NP_001395386.1:p.Asn669Ser missense NM_001408458.1:c.2003A>G NP_001395387.1:p.Asn668Ser missense NM_001408459.1:c.2003A>G NP_001395388.1:p.Asn668Ser missense NM_001408460.1:c.2003A>G NP_001395389.1:p.Asn668Ser missense NM_001408461.1:c.2003A>G NP_001395390.1:p.Asn668Ser missense NM_001408462.1:c.2003A>G NP_001395391.1:p.Asn668Ser missense NM_001408463.1:c.2003A>G NP_001395392.1:p.Asn668Ser missense NM_001408464.1:c.2003A>G NP_001395393.1:p.Asn668Ser missense NM_001408465.1:c.2003A>G NP_001395394.1:p.Asn668Ser missense NM_001408466.1:c.2003A>G NP_001395395.1:p.Asn668Ser missense NM_001408467.1:c.2003A>G NP_001395396.1:p.Asn668Ser missense NM_001408468.1:c.2000A>G NP_001395397.1:p.Asn667Ser missense NM_001408469.1:c.2000A>G NP_001395398.1:p.Asn667Ser missense NM_001408470.1:c.2000A>G NP_001395399.1:p.Asn667Ser missense NM_001408472.1:c.2070A>G NP_001395401.1:p.Gln690= synonymous NM_001408473.1:c.2067A>G NP_001395402.1:p.Gln689= synonymous NM_001408474.1:c.1946A>G NP_001395403.1:p.Asn649Ser missense NM_001408475.1:c.1943A>G NP_001395404.1:p.Asn648Ser missense NM_001408476.1:c.1943A>G NP_001395405.1:p.Asn648Ser missense NM_001408478.1:c.1937A>G NP_001395407.1:p.Asn646Ser missense NM_001408479.1:c.1937A>G NP_001395408.1:p.Asn646Ser missense NM_001408480.1:c.1937A>G NP_001395409.1:p.Asn646Ser missense NM_001408481.1:c.1934A>G NP_001395410.1:p.Asn645Ser missense NM_001408482.1:c.1934A>G NP_001395411.1:p.Asn645Ser missense NM_001408483.1:c.1934A>G NP_001395412.1:p.Asn645Ser missense NM_001408484.1:c.1934A>G NP_001395413.1:p.Asn645Ser missense NM_001408485.1:c.1934A>G NP_001395414.1:p.Asn645Ser missense NM_001408489.1:c.1934A>G NP_001395418.1:p.Asn645Ser missense NM_001408490.1:c.1934A>G NP_001395419.1:p.Asn645Ser missense NM_001408491.1:c.1934A>G NP_001395420.1:p.Asn645Ser missense NM_001408492.1:c.1931A>G NP_001395421.1:p.Asn644Ser missense NM_001408493.1:c.1931A>G NP_001395422.1:p.Asn644Ser missense NM_001408494.1:c.1907A>G NP_001395423.1:p.Asn636Ser missense NM_001408495.1:c.1901A>G NP_001395424.1:p.Asn634Ser missense NM_001408496.1:c.1883A>G NP_001395425.1:p.Asn628Ser missense NM_001408497.1:c.1883A>G NP_001395426.1:p.Asn628Ser missense NM_001408498.1:c.1883A>G NP_001395427.1:p.Asn628Ser missense NM_001408499.1:c.1883A>G NP_001395428.1:p.Asn628Ser missense NM_001408500.1:c.1883A>G NP_001395429.1:p.Asn628Ser missense NM_001408501.1:c.1883A>G NP_001395430.1:p.Asn628Ser missense NM_001408502.1:c.1880A>G NP_001395431.1:p.Asn627Ser missense NM_001408503.1:c.1880A>G NP_001395432.1:p.Asn627Ser missense NM_001408504.1:c.1880A>G NP_001395433.1:p.Asn627Ser missense NM_001408505.1:c.1877A>G NP_001395434.1:p.Asn626Ser missense NM_001408506.1:c.1820A>G NP_001395435.1:p.Asn607Ser missense NM_001408507.1:c.1817A>G NP_001395436.1:p.Asn606Ser missense NM_001408508.1:c.1808A>G NP_001395437.1:p.Asn603Ser missense NM_001408509.1:c.1805A>G NP_001395438.1:p.Asn602Ser missense NM_001408510.1:c.1766A>G NP_001395439.1:p.Asn589Ser missense NM_001408511.1:c.1763A>G NP_001395440.1:p.Asn588Ser missense NM_001408512.1:c.1643A>G NP_001395441.1:p.Asn548Ser missense NM_001408513.1:c.1616A>G NP_001395442.1:p.Asn539Ser missense NM_001408514.1:c.1220A>G NP_001395443.1:p.Asn407Ser missense NM_007297.4:c.5315A>G NP_009228.2:p.Asn1772Ser missense NM_007298.4:c.2144A>G NP_009229.2:p.Asn715Ser missense NM_007299.4:c.2070A>G NP_009230.2:p.Gln690= synonymous NM_007300.4:c.5519A>G NP_009231.2:p.Asn1840Ser missense NM_007304.2:c.2144A>G NP_009235.2:p.Asn715Ser missense NR_027676.2:n.5633A>G NC_000017.11:g.43047654T>C NC_000017.10:g.41199671T>C NG_005905.2:g.170330A>G LRG_292:g.170330A>G LRG_292t1:c.5456A>G LRG_292p1:p.Asn1819Ser U14680.1:n.5575A>G - Protein change
- N1819S, N1840S, N715S, N1772S, N1665S, N1692S, N1731S, N1748S, N1751S, N1776S, N1777S, N1792S, N1814S, N1839S, N407S, N539S, N589S, N626S, N628S, N636S, N644S, N667S, N668S, N675S, N676S, N712S, N713S, N716S, N738S, N950S, N951S, N1523S, N1691S, N1708S, N1729S, N1735S, N1749S, N1750S, N1800S, N1815S, N1817S, N602S, N606S, N673S, N674S, N677S, N690S, N1522S, N1690S, N1706S, N1730S, N1771S, N1778S, N1793S, N1816S, N548S, N588S, N603S, N607S, N645S, N648S, N649S, N737S, N1650S, N1707S, N1747S, N1752S, N1770S, N1775S, N1791S, N1799S, N1818S, N1841S, N627S, N634S, N646S, N669S, N671S, N689S, N691S, N714S
- Other names
- 5575A>G
- Canonical SPDI
- NC_000017.11:43047653:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_normal Sequence Ontology [SO:0002219]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5456A>G, a MISSENSE variant, produced a function score of 0.41, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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.
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
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 |
13019 | 14822 |
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. |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (4) |
no assertion criteria provided
|
Mar 2, 2020 | RCV000077625.19 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 20, 2022 | RCV000131632.14 | |
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
Apr 30, 2021 | RCV000587361.19 | |
Benign (1) |
criteria provided, single submitter
|
Jan 18, 2024 | RCV001080025.13 |
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. |
|
---|---|---|---|---|---|
Likely benign
(Mar 24, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699256.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant summary: The BRCA1 c.5456A>G variant affects a non-conserved nucleotide, resulting in amino acid change from a medium size and polar Asparagine (N) to a … (more)
Variant summary: The BRCA1 c.5456A>G variant affects a non-conserved nucleotide, resulting in amino acid change from a medium size and polar Asparagine (N) to a small size and polar Serine (S). 4/4 in-silico tools predict benign outcome for this variant (SNPs&GO not captured due to low reliability index). Functional assays support these in silico predictions of a benign outcome. Homology directed recombination is not impaired by this missense mutation (Lu_BRCA_Nature Comms_2015), nor is the activity of this BRCT domain variant in transcriptional activation (Lee_CR_2010 ) . Pavlicek et al._2004 predicted the variant to lead to a conservative substitution also implicating a neutral outcome. This variant was found in 4/121402 control chromosomes at a frequency of 0.0000329, which does not significantly exceed maximal expected frequency of a pathogenic BRCA1 allele (0.0010005). There is at least one HBOC family reported to have the variant in the literature but this report lacks clinical, co-segregation, and control data, therefore it does not permit establishment of a cause-effect relationship between the variant and HBOC (Judkins_Cancer Res_2005). In addition, several reputable clinical laboratories classified this variant as benign without evidence to independently evaluate. There have been no reports of pathogenic co-occurrences in patients. Functional evidence strongly support a benign outcome, thus this missense BRCA1 variant is classified as likely benign until co-occurrence or co-segregation data are available. (less)
|
|
Likely benign
(Jul 22, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000527062.4
First in ClinVar: Mar 08, 2017 Last updated: Sep 28, 2017 |
Comment:
This variant is associated with the following publications: (PMID: 20516115, 17305420, 10946236, 26689913, 15172985, 30209399, 33087888, 31825140)
|
|
Likely benign
(Apr 30, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602704.3
First in ClinVar: Sep 28, 2017 Last updated: Jan 08, 2022 |
|
|
Likely benign
(Jan 20, 2022)
|
criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002537859.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Benign
(Oct 31, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000911447.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
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Benign
(May 30, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133635.3
First in ClinVar: Jan 06, 2020 Last updated: Jan 03, 2022 |
|
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Benign
(Jan 18, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000077015.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
|
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Benign
(Jul 08, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186655.7
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Benign
(May 01, 2012)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000109428.4
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
|
|
Likely benign
(Mar 02, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004243913.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
|
Uncertain significance
(Feb 15, 1997)
|
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: SCV000145519.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001243910.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:0.40875721687432
|
|
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_normal
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Method citation(s):
|
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Brotman Baty Institute, University of Washington
Accession: SCV001243910.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5456A>G, a MISSENSE variant, produced a function score of 0.41, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5456A>G, a MISSENSE variant, produced a function score of 0.41, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Patterns and functional implications of rare germline variants across 12 cancer types. | Lu C | Nature communications | 2015 | PMID: 26689913 |
The mitochondrial and autosomal mutation landscapes of prostate cancer. | Lindberg J | European urology | 2013 | PMID: 23265383 |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | Lee MS | Cancer research | 2010 | PMID: 20516115 |
Functional impact of missense variants in BRCA1 predicted by supervised learning. | Karchin R | PLoS computational biology | 2007 | PMID: 17305420 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. | Pavlicek A | Human molecular genetics | 2004 | PMID: 15385441 |
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. | Mirkovic N | Cancer research | 2004 | PMID: 15172985 |
The BRCA1 C-terminal domain: structure and function. | Huyton T | Mutation research | 2000 | PMID: 10946236 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
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Text-mined citations for rs80357286 ...
HelpRecord last updated Sep 17, 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.