In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1575 of the BRCA1 protein (p.Pro1575Leu).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4724C>T (p.Pro1575Leu)
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.4724C>T (p.Pro1575Leu)
Variation ID: 2816372 Accession: VCV002816372.1
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071190 (GRCh38) [ NCBI UCSC ] 17: 41223207 (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 Feb 20, 2024 Feb 20, 2024 Jan 16, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4724C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1575Leu missense NM_001407571.1:c.4511C>T NP_001394500.1:p.Pro1504Leu missense NM_001407581.1:c.4790C>T NP_001394510.1:p.Pro1597Leu missense NM_001407582.1:c.4790C>T NP_001394511.1:p.Pro1597Leu missense NM_001407583.1:c.4787C>T NP_001394512.1:p.Pro1596Leu missense NM_001407585.1:c.4787C>T NP_001394514.1:p.Pro1596Leu missense NM_001407587.1:c.4787C>T NP_001394516.1:p.Pro1596Leu missense NM_001407590.1:c.4784C>T NP_001394519.1:p.Pro1595Leu missense NM_001407591.1:c.4784C>T NP_001394520.1:p.Pro1595Leu missense NM_001407593.1:c.4724C>T NP_001394522.1:p.Pro1575Leu missense NM_001407594.1:c.4724C>T NP_001394523.1:p.Pro1575Leu missense NM_001407596.1:c.4724C>T NP_001394525.1:p.Pro1575Leu missense NM_001407597.1:c.4724C>T NP_001394526.1:p.Pro1575Leu missense NM_001407598.1:c.4724C>T NP_001394527.1:p.Pro1575Leu missense NM_001407602.1:c.4724C>T NP_001394531.1:p.Pro1575Leu missense NM_001407603.1:c.4724C>T NP_001394532.1:p.Pro1575Leu missense NM_001407605.1:c.4724C>T NP_001394534.1:p.Pro1575Leu missense NM_001407610.1:c.4721C>T NP_001394539.1:p.Pro1574Leu missense NM_001407611.1:c.4721C>T NP_001394540.1:p.Pro1574Leu missense NM_001407612.1:c.4721C>T NP_001394541.1:p.Pro1574Leu missense NM_001407613.1:c.4721C>T NP_001394542.1:p.Pro1574Leu missense NM_001407614.1:c.4721C>T NP_001394543.1:p.Pro1574Leu missense NM_001407615.1:c.4721C>T NP_001394544.1:p.Pro1574Leu missense NM_001407616.1:c.4721C>T NP_001394545.1:p.Pro1574Leu missense NM_001407617.1:c.4721C>T NP_001394546.1:p.Pro1574Leu missense NM_001407618.1:c.4721C>T NP_001394547.1:p.Pro1574Leu missense NM_001407619.1:c.4721C>T NP_001394548.1:p.Pro1574Leu missense NM_001407620.1:c.4721C>T NP_001394549.1:p.Pro1574Leu missense NM_001407621.1:c.4721C>T NP_001394550.1:p.Pro1574Leu missense NM_001407622.1:c.4721C>T NP_001394551.1:p.Pro1574Leu missense NM_001407623.1:c.4721C>T NP_001394552.1:p.Pro1574Leu missense NM_001407624.1:c.4721C>T NP_001394553.1:p.Pro1574Leu missense NM_001407625.1:c.4721C>T NP_001394554.1:p.Pro1574Leu missense NM_001407626.1:c.4721C>T NP_001394555.1:p.Pro1574Leu missense NM_001407627.1:c.4718C>T NP_001394556.1:p.Pro1573Leu missense NM_001407628.1:c.4718C>T NP_001394557.1:p.Pro1573Leu missense NM_001407629.1:c.4718C>T NP_001394558.1:p.Pro1573Leu missense NM_001407630.1:c.4718C>T NP_001394559.1:p.Pro1573Leu missense NM_001407631.1:c.4718C>T NP_001394560.1:p.Pro1573Leu missense NM_001407632.1:c.4718C>T NP_001394561.1:p.Pro1573Leu missense NM_001407633.1:c.4718C>T NP_001394562.1:p.Pro1573Leu missense NM_001407634.1:c.4718C>T NP_001394563.1:p.Pro1573Leu missense NM_001407635.1:c.4718C>T NP_001394564.1:p.Pro1573Leu missense NM_001407636.1:c.4718C>T NP_001394565.1:p.Pro1573Leu missense NM_001407637.1:c.4718C>T NP_001394566.1:p.Pro1573Leu missense NM_001407638.1:c.4718C>T NP_001394567.1:p.Pro1573Leu missense NM_001407639.1:c.4718C>T NP_001394568.1:p.Pro1573Leu missense NM_001407640.1:c.4718C>T NP_001394569.1:p.Pro1573Leu missense NM_001407641.1:c.4718C>T NP_001394570.1:p.Pro1573Leu missense NM_001407642.1:c.4718C>T NP_001394571.1:p.Pro1573Leu missense NM_001407644.1:c.4715C>T NP_001394573.1:p.Pro1572Leu missense NM_001407645.1:c.4715C>T NP_001394574.1:p.Pro1572Leu missense NM_001407646.1:c.4712C>T NP_001394575.1:p.Pro1571Leu missense NM_001407647.1:c.4709C>T NP_001394576.1:p.Pro1570Leu missense NM_001407648.1:c.4667C>T NP_001394577.1:p.Pro1556Leu missense NM_001407649.1:c.4664C>T NP_001394578.1:p.Pro1555Leu missense NM_001407652.1:c.4724C>T NP_001394581.1:p.Pro1575Leu missense NM_001407653.1:c.4646C>T NP_001394582.1:p.Pro1549Leu missense NM_001407654.1:c.4646C>T NP_001394583.1:p.Pro1549Leu missense NM_001407655.1:c.4646C>T NP_001394584.1:p.Pro1549Leu missense NM_001407656.1:c.4643C>T NP_001394585.1:p.Pro1548Leu missense NM_001407657.1:c.4643C>T NP_001394586.1:p.Pro1548Leu missense NM_001407658.1:c.4643C>T NP_001394587.1:p.Pro1548Leu missense NM_001407659.1:c.4640C>T NP_001394588.1:p.Pro1547Leu missense NM_001407660.1:c.4640C>T NP_001394589.1:p.Pro1547Leu missense NM_001407661.1:c.4640C>T NP_001394590.1:p.Pro1547Leu missense NM_001407662.1:c.4640C>T NP_001394591.1:p.Pro1547Leu missense NM_001407663.1:c.4640C>T NP_001394592.1:p.Pro1547Leu missense NM_001407664.1:c.4601C>T NP_001394593.1:p.Pro1534Leu missense NM_001407665.1:c.4601C>T NP_001394594.1:p.Pro1534Leu missense NM_001407666.1:c.4601C>T NP_001394595.1:p.Pro1534Leu missense NM_001407667.1:c.4601C>T NP_001394596.1:p.Pro1534Leu missense NM_001407668.1:c.4601C>T NP_001394597.1:p.Pro1534Leu missense NM_001407669.1:c.4601C>T NP_001394598.1:p.Pro1534Leu missense NM_001407670.1:c.4598C>T NP_001394599.1:p.Pro1533Leu missense NM_001407671.1:c.4598C>T NP_001394600.1:p.Pro1533Leu missense NM_001407672.1:c.4598C>T NP_001394601.1:p.Pro1533Leu missense NM_001407673.1:c.4598C>T NP_001394602.1:p.Pro1533Leu missense NM_001407674.1:c.4598C>T NP_001394603.1:p.Pro1533Leu missense NM_001407675.1:c.4598C>T NP_001394604.1:p.Pro1533Leu missense NM_001407676.1:c.4598C>T NP_001394605.1:p.Pro1533Leu missense NM_001407677.1:c.4598C>T NP_001394606.1:p.Pro1533Leu missense NM_001407678.1:c.4598C>T NP_001394607.1:p.Pro1533Leu missense NM_001407679.1:c.4598C>T NP_001394608.1:p.Pro1533Leu missense NM_001407680.1:c.4598C>T NP_001394609.1:p.Pro1533Leu missense NM_001407681.1:c.4595C>T NP_001394610.1:p.Pro1532Leu missense NM_001407682.1:c.4595C>T NP_001394611.1:p.Pro1532Leu missense NM_001407683.1:c.4595C>T NP_001394612.1:p.Pro1532Leu missense NM_001407684.1:c.4724C>T NP_001394613.1:p.Pro1575Leu missense NM_001407685.1:c.4595C>T NP_001394614.1:p.Pro1532Leu missense NM_001407686.1:c.4595C>T NP_001394615.1:p.Pro1532Leu missense NM_001407687.1:c.4595C>T NP_001394616.1:p.Pro1532Leu missense NM_001407688.1:c.4595C>T NP_001394617.1:p.Pro1532Leu missense NM_001407689.1:c.4595C>T NP_001394618.1:p.Pro1532Leu missense NM_001407690.1:c.4592C>T NP_001394619.1:p.Pro1531Leu missense NM_001407691.1:c.4592C>T NP_001394620.1:p.Pro1531Leu missense NM_001407692.1:c.4583C>T NP_001394621.1:p.Pro1528Leu missense NM_001407694.1:c.4583C>T NP_001394623.1:p.Pro1528Leu missense NM_001407695.1:c.4583C>T NP_001394624.1:p.Pro1528Leu missense NM_001407696.1:c.4583C>T NP_001394625.1:p.Pro1528Leu missense NM_001407697.1:c.4583C>T NP_001394626.1:p.Pro1528Leu missense NM_001407698.1:c.4583C>T NP_001394627.1:p.Pro1528Leu missense NM_001407724.1:c.4583C>T NP_001394653.1:p.Pro1528Leu missense NM_001407725.1:c.4583C>T NP_001394654.1:p.Pro1528Leu missense NM_001407726.1:c.4583C>T NP_001394655.1:p.Pro1528Leu missense NM_001407727.1:c.4583C>T NP_001394656.1:p.Pro1528Leu missense NM_001407728.1:c.4583C>T NP_001394657.1:p.Pro1528Leu missense NM_001407729.1:c.4583C>T NP_001394658.1:p.Pro1528Leu missense NM_001407730.1:c.4583C>T NP_001394659.1:p.Pro1528Leu missense NM_001407731.1:c.4583C>T NP_001394660.1:p.Pro1528Leu missense NM_001407732.1:c.4580C>T NP_001394661.1:p.Pro1527Leu missense NM_001407733.1:c.4580C>T NP_001394662.1:p.Pro1527Leu missense NM_001407734.1:c.4580C>T NP_001394663.1:p.Pro1527Leu missense NM_001407735.1:c.4580C>T NP_001394664.1:p.Pro1527Leu missense NM_001407736.1:c.4580C>T NP_001394665.1:p.Pro1527Leu missense NM_001407737.1:c.4580C>T NP_001394666.1:p.Pro1527Leu missense NM_001407738.1:c.4580C>T NP_001394667.1:p.Pro1527Leu missense NM_001407739.1:c.4580C>T NP_001394668.1:p.Pro1527Leu missense NM_001407740.1:c.4580C>T NP_001394669.1:p.Pro1527Leu missense NM_001407741.1:c.4580C>T NP_001394670.1:p.Pro1527Leu missense NM_001407742.1:c.4580C>T NP_001394671.1:p.Pro1527Leu missense NM_001407743.1:c.4580C>T NP_001394672.1:p.Pro1527Leu missense NM_001407744.1:c.4580C>T NP_001394673.1:p.Pro1527Leu missense NM_001407745.1:c.4580C>T NP_001394674.1:p.Pro1527Leu missense NM_001407746.1:c.4580C>T NP_001394675.1:p.Pro1527Leu missense NM_001407747.1:c.4580C>T NP_001394676.1:p.Pro1527Leu missense NM_001407748.1:c.4580C>T NP_001394677.1:p.Pro1527Leu missense NM_001407749.1:c.4580C>T NP_001394678.1:p.Pro1527Leu missense NM_001407750.1:c.4580C>T NP_001394679.1:p.Pro1527Leu missense NM_001407751.1:c.4580C>T NP_001394680.1:p.Pro1527Leu missense NM_001407752.1:c.4580C>T NP_001394681.1:p.Pro1527Leu missense NM_001407838.1:c.4577C>T NP_001394767.1:p.Pro1526Leu missense NM_001407839.1:c.4577C>T NP_001394768.1:p.Pro1526Leu missense NM_001407841.1:c.4577C>T NP_001394770.1:p.Pro1526Leu missense NM_001407842.1:c.4577C>T NP_001394771.1:p.Pro1526Leu missense NM_001407843.1:c.4577C>T NP_001394772.1:p.Pro1526Leu missense NM_001407844.1:c.4577C>T NP_001394773.1:p.Pro1526Leu missense NM_001407845.1:c.4577C>T NP_001394774.1:p.Pro1526Leu missense NM_001407846.1:c.4577C>T NP_001394775.1:p.Pro1526Leu missense NM_001407847.1:c.4577C>T NP_001394776.1:p.Pro1526Leu missense NM_001407848.1:c.4577C>T NP_001394777.1:p.Pro1526Leu missense NM_001407849.1:c.4577C>T NP_001394778.1:p.Pro1526Leu missense NM_001407850.1:c.4577C>T NP_001394779.1:p.Pro1526Leu missense NM_001407851.1:c.4577C>T NP_001394780.1:p.Pro1526Leu missense NM_001407852.1:c.4577C>T NP_001394781.1:p.Pro1526Leu missense NM_001407853.1:c.4577C>T NP_001394782.1:p.Pro1526Leu missense NM_001407854.1:c.4724C>T NP_001394783.1:p.Pro1575Leu missense NM_001407858.1:c.4721C>T NP_001394787.1:p.Pro1574Leu missense NM_001407859.1:c.4721C>T NP_001394788.1:p.Pro1574Leu missense NM_001407860.1:c.4721C>T NP_001394789.1:p.Pro1574Leu missense NM_001407861.1:c.4718C>T NP_001394790.1:p.Pro1573Leu missense NM_001407862.1:c.4523C>T NP_001394791.1:p.Pro1508Leu missense NM_001407863.1:c.4598C>T NP_001394792.1:p.Pro1533Leu missense NM_001407874.1:c.4517C>T NP_001394803.1:p.Pro1506Leu missense NM_001407875.1:c.4517C>T NP_001394804.1:p.Pro1506Leu missense NM_001407879.1:c.4514C>T NP_001394808.1:p.Pro1505Leu missense NM_001407881.1:c.4514C>T NP_001394810.1:p.Pro1505Leu missense NM_001407882.1:c.4514C>T NP_001394811.1:p.Pro1505Leu missense NM_001407884.1:c.4514C>T NP_001394813.1:p.Pro1505Leu missense NM_001407885.1:c.4514C>T NP_001394814.1:p.Pro1505Leu missense NM_001407886.1:c.4514C>T NP_001394815.1:p.Pro1505Leu missense NM_001407887.1:c.4514C>T NP_001394816.1:p.Pro1505Leu missense NM_001407889.1:c.4514C>T NP_001394818.1:p.Pro1505Leu missense NM_001407894.1:c.4511C>T NP_001394823.1:p.Pro1504Leu missense NM_001407895.1:c.4511C>T NP_001394824.1:p.Pro1504Leu missense NM_001407896.1:c.4511C>T NP_001394825.1:p.Pro1504Leu missense NM_001407897.1:c.4511C>T NP_001394826.1:p.Pro1504Leu missense NM_001407898.1:c.4511C>T NP_001394827.1:p.Pro1504Leu missense NM_001407899.1:c.4511C>T NP_001394828.1:p.Pro1504Leu missense NM_001407900.1:c.4511C>T NP_001394829.1:p.Pro1504Leu missense NM_001407902.1:c.4511C>T NP_001394831.1:p.Pro1504Leu missense NM_001407904.1:c.4511C>T NP_001394833.1:p.Pro1504Leu missense NM_001407906.1:c.4511C>T NP_001394835.1:p.Pro1504Leu missense NM_001407907.1:c.4511C>T NP_001394836.1:p.Pro1504Leu missense NM_001407908.1:c.4511C>T NP_001394837.1:p.Pro1504Leu missense NM_001407909.1:c.4511C>T NP_001394838.1:p.Pro1504Leu missense NM_001407910.1:c.4511C>T NP_001394839.1:p.Pro1504Leu missense NM_001407915.1:c.4508C>T NP_001394844.1:p.Pro1503Leu missense NM_001407916.1:c.4508C>T NP_001394845.1:p.Pro1503Leu missense NM_001407917.1:c.4508C>T NP_001394846.1:p.Pro1503Leu missense NM_001407918.1:c.4508C>T NP_001394847.1:p.Pro1503Leu missense NM_001407919.1:c.4601C>T NP_001394848.1:p.Pro1534Leu missense NM_001407920.1:c.4460C>T NP_001394849.1:p.Pro1487Leu missense NM_001407921.1:c.4460C>T NP_001394850.1:p.Pro1487Leu missense NM_001407922.1:c.4460C>T NP_001394851.1:p.Pro1487Leu missense NM_001407923.1:c.4460C>T NP_001394852.1:p.Pro1487Leu missense NM_001407924.1:c.4460C>T NP_001394853.1:p.Pro1487Leu missense NM_001407925.1:c.4460C>T NP_001394854.1:p.Pro1487Leu missense NM_001407926.1:c.4460C>T NP_001394855.1:p.Pro1487Leu missense NM_001407927.1:c.4457C>T NP_001394856.1:p.Pro1486Leu missense NM_001407928.1:c.4457C>T NP_001394857.1:p.Pro1486Leu missense NM_001407929.1:c.4457C>T NP_001394858.1:p.Pro1486Leu missense NM_001407930.1:c.4457C>T NP_001394859.1:p.Pro1486Leu missense NM_001407931.1:c.4457C>T NP_001394860.1:p.Pro1486Leu missense NM_001407932.1:c.4457C>T NP_001394861.1:p.Pro1486Leu missense NM_001407933.1:c.4457C>T NP_001394862.1:p.Pro1486Leu missense NM_001407934.1:c.4454C>T NP_001394863.1:p.Pro1485Leu missense NM_001407935.1:c.4454C>T NP_001394864.1:p.Pro1485Leu missense NM_001407936.1:c.4454C>T NP_001394865.1:p.Pro1485Leu missense NM_001407937.1:c.4601C>T NP_001394866.1:p.Pro1534Leu missense NM_001407938.1:c.4601C>T NP_001394867.1:p.Pro1534Leu missense NM_001407939.1:c.4598C>T NP_001394868.1:p.Pro1533Leu missense NM_001407940.1:c.4598C>T NP_001394869.1:p.Pro1533Leu missense NM_001407941.1:c.4595C>T NP_001394870.1:p.Pro1532Leu missense NM_001407942.1:c.4583C>T NP_001394871.1:p.Pro1528Leu missense NM_001407943.1:c.4580C>T NP_001394872.1:p.Pro1527Leu missense NM_001407944.1:c.4580C>T NP_001394873.1:p.Pro1527Leu missense NM_001407945.1:c.4580C>T NP_001394874.1:p.Pro1527Leu missense NM_001407946.1:c.4391C>T NP_001394875.1:p.Pro1464Leu missense NM_001407947.1:c.4391C>T NP_001394876.1:p.Pro1464Leu missense NM_001407948.1:c.4391C>T NP_001394877.1:p.Pro1464Leu missense NM_001407949.1:c.4391C>T NP_001394878.1:p.Pro1464Leu missense NM_001407950.1:c.4388C>T NP_001394879.1:p.Pro1463Leu missense NM_001407951.1:c.4388C>T NP_001394880.1:p.Pro1463Leu missense NM_001407952.1:c.4388C>T NP_001394881.1:p.Pro1463Leu missense NM_001407953.1:c.4388C>T NP_001394882.1:p.Pro1463Leu missense NM_001407954.1:c.4388C>T NP_001394883.1:p.Pro1463Leu missense NM_001407955.1:c.4388C>T NP_001394884.1:p.Pro1463Leu missense NM_001407956.1:c.4385C>T NP_001394885.1:p.Pro1462Leu missense NM_001407957.1:c.4385C>T NP_001394886.1:p.Pro1462Leu missense NM_001407958.1:c.4385C>T NP_001394887.1:p.Pro1462Leu missense NM_001407959.1:c.4343C>T NP_001394888.1:p.Pro1448Leu missense NM_001407960.1:c.4340C>T NP_001394889.1:p.Pro1447Leu missense NM_001407962.1:c.4340C>T NP_001394891.1:p.Pro1447Leu missense NM_001407963.1:c.4337C>T NP_001394892.1:p.Pro1446Leu missense NM_001407964.1:c.4262C>T NP_001394893.1:p.Pro1421Leu missense NM_001407965.1:c.4217C>T NP_001394894.1:p.Pro1406Leu missense NM_001407966.1:c.3836C>T NP_001394895.1:p.Pro1279Leu missense NM_001407967.1:c.3833C>T NP_001394896.1:p.Pro1278Leu missense NM_001407968.1:c.2120C>T NP_001394897.1:p.Pro707Leu missense NM_001407969.1:c.2117C>T NP_001394898.1:p.Pro706Leu missense NM_001407970.1:c.1481C>T NP_001394899.1:p.Pro494Leu missense NM_001407971.1:c.1481C>T NP_001394900.1:p.Pro494Leu missense NM_001407972.1:c.1478C>T NP_001394901.1:p.Pro493Leu missense NM_001407973.1:c.1415C>T NP_001394902.1:p.Pro472Leu missense NM_001407974.1:c.1415C>T NP_001394903.1:p.Pro472Leu missense NM_001407975.1:c.1415C>T NP_001394904.1:p.Pro472Leu missense NM_001407976.1:c.1415C>T NP_001394905.1:p.Pro472Leu missense NM_001407977.1:c.1415C>T NP_001394906.1:p.Pro472Leu missense NM_001407978.1:c.1415C>T NP_001394907.1:p.Pro472Leu missense NM_001407979.1:c.1412C>T NP_001394908.1:p.Pro471Leu missense NM_001407980.1:c.1412C>T NP_001394909.1:p.Pro471Leu missense NM_001407981.1:c.1412C>T NP_001394910.1:p.Pro471Leu missense NM_001407982.1:c.1412C>T NP_001394911.1:p.Pro471Leu missense NM_001407983.1:c.1412C>T NP_001394912.1:p.Pro471Leu missense NM_001407984.1:c.1412C>T NP_001394913.1:p.Pro471Leu missense NM_001407985.1:c.1412C>T NP_001394914.1:p.Pro471Leu missense NM_001407986.1:c.1412C>T NP_001394915.1:p.Pro471Leu missense NM_001407990.1:c.1412C>T NP_001394919.1:p.Pro471Leu missense NM_001407991.1:c.1412C>T NP_001394920.1:p.Pro471Leu missense NM_001407992.1:c.1412C>T NP_001394921.1:p.Pro471Leu missense NM_001407993.1:c.1412C>T NP_001394922.1:p.Pro471Leu missense NM_001408392.1:c.1409C>T NP_001395321.1:p.Pro470Leu missense NM_001408396.1:c.1409C>T NP_001395325.1:p.Pro470Leu missense NM_001408397.1:c.1409C>T NP_001395326.1:p.Pro470Leu missense NM_001408398.1:c.1409C>T NP_001395327.1:p.Pro470Leu missense NM_001408399.1:c.1409C>T NP_001395328.1:p.Pro470Leu missense NM_001408400.1:c.1409C>T NP_001395329.1:p.Pro470Leu missense NM_001408401.1:c.1409C>T NP_001395330.1:p.Pro470Leu missense NM_001408402.1:c.1409C>T NP_001395331.1:p.Pro470Leu missense NM_001408403.1:c.1409C>T NP_001395332.1:p.Pro470Leu missense NM_001408404.1:c.1409C>T NP_001395333.1:p.Pro470Leu missense NM_001408406.1:c.1406C>T NP_001395335.1:p.Pro469Leu missense NM_001408407.1:c.1406C>T NP_001395336.1:p.Pro469Leu missense NM_001408408.1:c.1406C>T NP_001395337.1:p.Pro469Leu missense NM_001408409.1:c.1403C>T NP_001395338.1:p.Pro468Leu missense NM_001408410.1:c.1340C>T NP_001395339.1:p.Pro447Leu missense NM_001408411.1:c.1337C>T NP_001395340.1:p.Pro446Leu missense NM_001408412.1:c.1334C>T NP_001395341.1:p.Pro445Leu missense NM_001408413.1:c.1334C>T NP_001395342.1:p.Pro445Leu missense NM_001408414.1:c.1334C>T NP_001395343.1:p.Pro445Leu missense NM_001408415.1:c.1334C>T NP_001395344.1:p.Pro445Leu missense NM_001408416.1:c.1334C>T NP_001395345.1:p.Pro445Leu missense NM_001408418.1:c.1298C>T NP_001395347.1:p.Pro433Leu missense NM_001408419.1:c.1298C>T NP_001395348.1:p.Pro433Leu missense NM_001408420.1:c.1298C>T NP_001395349.1:p.Pro433Leu missense NM_001408421.1:c.1295C>T NP_001395350.1:p.Pro432Leu missense NM_001408422.1:c.1295C>T NP_001395351.1:p.Pro432Leu missense NM_001408423.1:c.1295C>T NP_001395352.1:p.Pro432Leu missense NM_001408424.1:c.1295C>T NP_001395353.1:p.Pro432Leu missense NM_001408425.1:c.1292C>T NP_001395354.1:p.Pro431Leu missense NM_001408426.1:c.1292C>T NP_001395355.1:p.Pro431Leu missense NM_001408427.1:c.1292C>T NP_001395356.1:p.Pro431Leu missense NM_001408428.1:c.1292C>T NP_001395357.1:p.Pro431Leu missense NM_001408429.1:c.1292C>T NP_001395358.1:p.Pro431Leu missense NM_001408430.1:c.1292C>T NP_001395359.1:p.Pro431Leu missense NM_001408431.1:c.1292C>T NP_001395360.1:p.Pro431Leu missense NM_001408432.1:c.1289C>T NP_001395361.1:p.Pro430Leu missense NM_001408433.1:c.1289C>T NP_001395362.1:p.Pro430Leu missense NM_001408434.1:c.1289C>T NP_001395363.1:p.Pro430Leu missense NM_001408435.1:c.1289C>T NP_001395364.1:p.Pro430Leu missense NM_001408436.1:c.1289C>T NP_001395365.1:p.Pro430Leu missense NM_001408437.1:c.1289C>T NP_001395366.1:p.Pro430Leu missense NM_001408438.1:c.1289C>T NP_001395367.1:p.Pro430Leu missense NM_001408439.1:c.1289C>T NP_001395368.1:p.Pro430Leu missense NM_001408440.1:c.1289C>T NP_001395369.1:p.Pro430Leu missense NM_001408441.1:c.1289C>T NP_001395370.1:p.Pro430Leu missense NM_001408442.1:c.1289C>T NP_001395371.1:p.Pro430Leu missense NM_001408443.1:c.1289C>T NP_001395372.1:p.Pro430Leu missense NM_001408444.1:c.1289C>T NP_001395373.1:p.Pro430Leu missense NM_001408445.1:c.1286C>T NP_001395374.1:p.Pro429Leu missense NM_001408446.1:c.1286C>T NP_001395375.1:p.Pro429Leu missense NM_001408447.1:c.1286C>T NP_001395376.1:p.Pro429Leu missense NM_001408448.1:c.1286C>T NP_001395377.1:p.Pro429Leu missense NM_001408450.1:c.1286C>T NP_001395379.1:p.Pro429Leu missense NM_001408451.1:c.1280C>T NP_001395380.1:p.Pro427Leu missense NM_001408452.1:c.1274C>T NP_001395381.1:p.Pro425Leu missense NM_001408453.1:c.1274C>T NP_001395382.1:p.Pro425Leu missense NM_001408454.1:c.1274C>T NP_001395383.1:p.Pro425Leu missense NM_001408455.1:c.1274C>T NP_001395384.1:p.Pro425Leu missense NM_001408456.1:c.1274C>T NP_001395385.1:p.Pro425Leu missense NM_001408457.1:c.1274C>T NP_001395386.1:p.Pro425Leu missense NM_001408458.1:c.1271C>T NP_001395387.1:p.Pro424Leu missense NM_001408459.1:c.1271C>T NP_001395388.1:p.Pro424Leu missense NM_001408460.1:c.1271C>T NP_001395389.1:p.Pro424Leu missense NM_001408461.1:c.1271C>T NP_001395390.1:p.Pro424Leu missense NM_001408462.1:c.1271C>T NP_001395391.1:p.Pro424Leu missense NM_001408463.1:c.1271C>T NP_001395392.1:p.Pro424Leu missense NM_001408464.1:c.1271C>T NP_001395393.1:p.Pro424Leu missense NM_001408465.1:c.1271C>T NP_001395394.1:p.Pro424Leu missense NM_001408466.1:c.1271C>T NP_001395395.1:p.Pro424Leu missense NM_001408467.1:c.1271C>T NP_001395396.1:p.Pro424Leu missense NM_001408468.1:c.1268C>T NP_001395397.1:p.Pro423Leu missense NM_001408469.1:c.1268C>T NP_001395398.1:p.Pro423Leu missense NM_001408470.1:c.1268C>T NP_001395399.1:p.Pro423Leu missense NM_001408472.1:c.1412C>T NP_001395401.1:p.Pro471Leu missense NM_001408473.1:c.1409C>T NP_001395402.1:p.Pro470Leu missense NM_001408474.1:c.1214C>T NP_001395403.1:p.Pro405Leu missense NM_001408475.1:c.1211C>T NP_001395404.1:p.Pro404Leu missense NM_001408476.1:c.1211C>T NP_001395405.1:p.Pro404Leu missense NM_001408478.1:c.1205C>T NP_001395407.1:p.Pro402Leu missense NM_001408479.1:c.1205C>T NP_001395408.1:p.Pro402Leu missense NM_001408480.1:c.1205C>T NP_001395409.1:p.Pro402Leu missense NM_001408481.1:c.1202C>T NP_001395410.1:p.Pro401Leu missense NM_001408482.1:c.1202C>T NP_001395411.1:p.Pro401Leu missense NM_001408483.1:c.1202C>T NP_001395412.1:p.Pro401Leu missense NM_001408484.1:c.1202C>T NP_001395413.1:p.Pro401Leu missense NM_001408485.1:c.1202C>T NP_001395414.1:p.Pro401Leu missense NM_001408489.1:c.1202C>T NP_001395418.1:p.Pro401Leu missense NM_001408490.1:c.1202C>T NP_001395419.1:p.Pro401Leu missense NM_001408491.1:c.1202C>T NP_001395420.1:p.Pro401Leu missense NM_001408492.1:c.1199C>T NP_001395421.1:p.Pro400Leu missense NM_001408493.1:c.1199C>T NP_001395422.1:p.Pro400Leu missense NM_001408494.1:c.1175C>T NP_001395423.1:p.Pro392Leu missense NM_001408495.1:c.1169C>T NP_001395424.1:p.Pro390Leu missense NM_001408496.1:c.1151C>T NP_001395425.1:p.Pro384Leu missense NM_001408497.1:c.1151C>T NP_001395426.1:p.Pro384Leu missense NM_001408498.1:c.1151C>T NP_001395427.1:p.Pro384Leu missense NM_001408499.1:c.1151C>T NP_001395428.1:p.Pro384Leu missense NM_001408500.1:c.1151C>T NP_001395429.1:p.Pro384Leu missense NM_001408501.1:c.1151C>T NP_001395430.1:p.Pro384Leu missense NM_001408502.1:c.1148C>T NP_001395431.1:p.Pro383Leu missense NM_001408503.1:c.1148C>T NP_001395432.1:p.Pro383Leu missense NM_001408504.1:c.1148C>T NP_001395433.1:p.Pro383Leu missense NM_001408505.1:c.1145C>T NP_001395434.1:p.Pro382Leu missense NM_001408506.1:c.1088C>T NP_001395435.1:p.Pro363Leu missense NM_001408507.1:c.1085C>T NP_001395436.1:p.Pro362Leu missense NM_001408508.1:c.1076C>T NP_001395437.1:p.Pro359Leu missense NM_001408509.1:c.1073C>T NP_001395438.1:p.Pro358Leu missense NM_001408510.1:c.1034C>T NP_001395439.1:p.Pro345Leu missense NM_001408511.1:c.1031C>T NP_001395440.1:p.Pro344Leu missense NM_001408512.1:c.911C>T NP_001395441.1:p.Pro304Leu missense NM_001408513.1:c.884C>T NP_001395442.1:p.Pro295Leu missense NM_001408514.1:c.839-7239C>T intron variant NM_007297.4:c.4583C>T NP_009228.2:p.Pro1528Leu missense NM_007298.4:c.1412C>T NP_009229.2:p.Pro471Leu missense NM_007299.4:c.1412C>T NP_009230.2:p.Pro471Leu missense NM_007300.4:c.4787C>T NP_009231.2:p.Pro1596Leu missense NM_007304.2:c.1412C>T NP_009235.2:p.Pro471Leu missense NR_027676.2:n.4901C>T NC_000017.11:g.43071190G>A NC_000017.10:g.41223207G>A NG_005905.2:g.146794C>T LRG_292:g.146794C>T LRG_292t1:c.4724C>T LRG_292p1:p.Pro1575Leu - Protein change
- P1446L, P1447L, P1487L, P1504L, P1527L, P1528L, P1555L, P295L, P304L, P363L, P390L, P432L, P433L, P446L, P468L, P470L, P472L, P1278L, P1279L, P1421L, P1448L, P1503L, P1508L, P1531L, P1534L, P1556L, P1574L, P1575L, P344L, P345L, P358L, P383L, P392L, P404L, P405L, P423L, P424L, P429L, P445L, P447L, P471L, P494L, P1406L, P1463L, P1464L, P1505L, P1526L, P1533L, P1547L, P1548L, P1549L, P1570L, P1572L, P1597L, P359L, P362L, P382L, P384L, P427L, P431L, P493L, P706L, P1462L, P1485L, P1486L, P1506L, P1532L, P1571L, P1573L, P1595L, P1596L, P400L, P401L, P402L, P425L, P430L, P469L, P707L
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071189:G:A
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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.
- -
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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 |
13041 | 14847 | |
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
|
Jan 16, 2023 | RCV003645595.2 |
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
(Jan 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004414053.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1575 of the BRCA1 protein (p.Pro1575Leu). (less)
|
Comment:
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. |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1575 of the BRCA1 protein (p.Pro1575Leu).
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 this variant ...
HelpRecord last updated Sep 30, 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.