This variant has not been reported in the literature in individuals with a BRCA1-related disease. In summary, this variant has uncertain impact on BRCA1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Benign"; Align-GVGD: "Class C35"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with serine at codon 1391 of the BRCA1 protein (p.Ile1391Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4172T>G (p.Ile1391Ser)
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.4172T>G (p.Ile1391Ser)
Variation ID: 462636 Accession: VCV000462636.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43090957 (GRCh38) [ NCBI UCSC ] 17: 41242974 (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 Dec 26, 2017 Feb 20, 2024 Jun 5, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4172T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile1391Ser missense NM_001407571.1:c.3959T>G NP_001394500.1:p.Ile1320Ser missense NM_001407581.1:c.4172T>G NP_001394510.1:p.Ile1391Ser missense NM_001407582.1:c.4172T>G NP_001394511.1:p.Ile1391Ser missense NM_001407583.1:c.4172T>G NP_001394512.1:p.Ile1391Ser missense NM_001407585.1:c.4172T>G NP_001394514.1:p.Ile1391Ser missense NM_001407587.1:c.4169T>G NP_001394516.1:p.Ile1390Ser missense NM_001407590.1:c.4169T>G NP_001394519.1:p.Ile1390Ser missense NM_001407591.1:c.4169T>G NP_001394520.1:p.Ile1390Ser missense NM_001407593.1:c.4172T>G NP_001394522.1:p.Ile1391Ser missense NM_001407594.1:c.4172T>G NP_001394523.1:p.Ile1391Ser missense NM_001407596.1:c.4172T>G NP_001394525.1:p.Ile1391Ser missense NM_001407597.1:c.4172T>G NP_001394526.1:p.Ile1391Ser missense NM_001407598.1:c.4172T>G NP_001394527.1:p.Ile1391Ser missense NM_001407602.1:c.4172T>G NP_001394531.1:p.Ile1391Ser missense NM_001407603.1:c.4172T>G NP_001394532.1:p.Ile1391Ser missense NM_001407605.1:c.4172T>G NP_001394534.1:p.Ile1391Ser missense NM_001407610.1:c.4169T>G NP_001394539.1:p.Ile1390Ser missense NM_001407611.1:c.4169T>G NP_001394540.1:p.Ile1390Ser missense NM_001407612.1:c.4169T>G NP_001394541.1:p.Ile1390Ser missense NM_001407613.1:c.4169T>G NP_001394542.1:p.Ile1390Ser missense NM_001407614.1:c.4169T>G NP_001394543.1:p.Ile1390Ser missense NM_001407615.1:c.4169T>G NP_001394544.1:p.Ile1390Ser missense NM_001407616.1:c.4172T>G NP_001394545.1:p.Ile1391Ser missense NM_001407617.1:c.4172T>G NP_001394546.1:p.Ile1391Ser missense NM_001407618.1:c.4172T>G NP_001394547.1:p.Ile1391Ser missense NM_001407619.1:c.4172T>G NP_001394548.1:p.Ile1391Ser missense NM_001407620.1:c.4172T>G NP_001394549.1:p.Ile1391Ser missense NM_001407621.1:c.4172T>G NP_001394550.1:p.Ile1391Ser missense NM_001407622.1:c.4172T>G NP_001394551.1:p.Ile1391Ser missense NM_001407623.1:c.4172T>G NP_001394552.1:p.Ile1391Ser missense NM_001407624.1:c.4172T>G NP_001394553.1:p.Ile1391Ser missense NM_001407625.1:c.4172T>G NP_001394554.1:p.Ile1391Ser missense NM_001407626.1:c.4172T>G NP_001394555.1:p.Ile1391Ser missense NM_001407627.1:c.4169T>G NP_001394556.1:p.Ile1390Ser missense NM_001407628.1:c.4169T>G NP_001394557.1:p.Ile1390Ser missense NM_001407629.1:c.4169T>G NP_001394558.1:p.Ile1390Ser missense NM_001407630.1:c.4169T>G NP_001394559.1:p.Ile1390Ser missense NM_001407631.1:c.4169T>G NP_001394560.1:p.Ile1390Ser missense NM_001407632.1:c.4169T>G NP_001394561.1:p.Ile1390Ser missense NM_001407633.1:c.4169T>G NP_001394562.1:p.Ile1390Ser missense NM_001407634.1:c.4169T>G NP_001394563.1:p.Ile1390Ser missense NM_001407635.1:c.4169T>G NP_001394564.1:p.Ile1390Ser missense NM_001407636.1:c.4169T>G NP_001394565.1:p.Ile1390Ser missense NM_001407637.1:c.4169T>G NP_001394566.1:p.Ile1390Ser missense NM_001407638.1:c.4169T>G NP_001394567.1:p.Ile1390Ser missense NM_001407639.1:c.4172T>G NP_001394568.1:p.Ile1391Ser missense NM_001407640.1:c.4172T>G NP_001394569.1:p.Ile1391Ser missense NM_001407641.1:c.4172T>G NP_001394570.1:p.Ile1391Ser missense NM_001407642.1:c.4172T>G NP_001394571.1:p.Ile1391Ser missense NM_001407644.1:c.4169T>G NP_001394573.1:p.Ile1390Ser missense NM_001407645.1:c.4169T>G NP_001394574.1:p.Ile1390Ser missense NM_001407646.1:c.4163T>G NP_001394575.1:p.Ile1388Ser missense NM_001407647.1:c.4163T>G NP_001394576.1:p.Ile1388Ser missense NM_001407648.1:c.4049T>G NP_001394577.1:p.Ile1350Ser missense NM_001407649.1:c.4046T>G NP_001394578.1:p.Ile1349Ser missense NM_001407652.1:c.4172T>G NP_001394581.1:p.Ile1391Ser missense NM_001407653.1:c.4094T>G NP_001394582.1:p.Ile1365Ser missense NM_001407654.1:c.4094T>G NP_001394583.1:p.Ile1365Ser missense NM_001407655.1:c.4094T>G NP_001394584.1:p.Ile1365Ser missense NM_001407656.1:c.4094T>G NP_001394585.1:p.Ile1365Ser missense NM_001407657.1:c.4094T>G NP_001394586.1:p.Ile1365Ser missense NM_001407658.1:c.4094T>G NP_001394587.1:p.Ile1365Ser missense NM_001407659.1:c.4091T>G NP_001394588.1:p.Ile1364Ser missense NM_001407660.1:c.4091T>G NP_001394589.1:p.Ile1364Ser missense NM_001407661.1:c.4091T>G NP_001394590.1:p.Ile1364Ser missense NM_001407662.1:c.4091T>G NP_001394591.1:p.Ile1364Ser missense NM_001407663.1:c.4094T>G NP_001394592.1:p.Ile1365Ser missense NM_001407664.1:c.4049T>G NP_001394593.1:p.Ile1350Ser missense NM_001407665.1:c.4049T>G NP_001394594.1:p.Ile1350Ser missense NM_001407666.1:c.4049T>G NP_001394595.1:p.Ile1350Ser missense NM_001407667.1:c.4049T>G NP_001394596.1:p.Ile1350Ser missense NM_001407668.1:c.4049T>G NP_001394597.1:p.Ile1350Ser missense NM_001407669.1:c.4049T>G NP_001394598.1:p.Ile1350Ser missense NM_001407670.1:c.4046T>G NP_001394599.1:p.Ile1349Ser missense NM_001407671.1:c.4046T>G NP_001394600.1:p.Ile1349Ser missense NM_001407672.1:c.4046T>G NP_001394601.1:p.Ile1349Ser missense NM_001407673.1:c.4046T>G NP_001394602.1:p.Ile1349Ser missense NM_001407674.1:c.4049T>G NP_001394603.1:p.Ile1350Ser missense NM_001407675.1:c.4049T>G NP_001394604.1:p.Ile1350Ser missense NM_001407676.1:c.4049T>G NP_001394605.1:p.Ile1350Ser missense NM_001407677.1:c.4049T>G NP_001394606.1:p.Ile1350Ser missense NM_001407678.1:c.4049T>G NP_001394607.1:p.Ile1350Ser missense NM_001407679.1:c.4049T>G NP_001394608.1:p.Ile1350Ser missense NM_001407680.1:c.4049T>G NP_001394609.1:p.Ile1350Ser missense NM_001407681.1:c.4049T>G NP_001394610.1:p.Ile1350Ser missense NM_001407682.1:c.4049T>G NP_001394611.1:p.Ile1350Ser missense NM_001407683.1:c.4049T>G NP_001394612.1:p.Ile1350Ser missense NM_001407684.1:c.4172T>G NP_001394613.1:p.Ile1391Ser missense NM_001407685.1:c.4046T>G NP_001394614.1:p.Ile1349Ser missense NM_001407686.1:c.4046T>G NP_001394615.1:p.Ile1349Ser missense NM_001407687.1:c.4046T>G NP_001394616.1:p.Ile1349Ser missense NM_001407688.1:c.4046T>G NP_001394617.1:p.Ile1349Ser missense NM_001407689.1:c.4046T>G NP_001394618.1:p.Ile1349Ser missense NM_001407690.1:c.4046T>G NP_001394619.1:p.Ile1349Ser missense NM_001407691.1:c.4046T>G NP_001394620.1:p.Ile1349Ser missense NM_001407692.1:c.4031T>G NP_001394621.1:p.Ile1344Ser missense NM_001407694.1:c.4031T>G NP_001394623.1:p.Ile1344Ser missense NM_001407695.1:c.4031T>G NP_001394624.1:p.Ile1344Ser missense NM_001407696.1:c.4031T>G NP_001394625.1:p.Ile1344Ser missense NM_001407697.1:c.4031T>G NP_001394626.1:p.Ile1344Ser missense NM_001407698.1:c.4031T>G NP_001394627.1:p.Ile1344Ser missense NM_001407724.1:c.4031T>G NP_001394653.1:p.Ile1344Ser missense NM_001407725.1:c.4031T>G NP_001394654.1:p.Ile1344Ser missense NM_001407726.1:c.4031T>G NP_001394655.1:p.Ile1344Ser missense NM_001407727.1:c.4031T>G NP_001394656.1:p.Ile1344Ser missense NM_001407728.1:c.4031T>G NP_001394657.1:p.Ile1344Ser missense NM_001407729.1:c.4031T>G NP_001394658.1:p.Ile1344Ser missense NM_001407730.1:c.4031T>G NP_001394659.1:p.Ile1344Ser missense NM_001407731.1:c.4031T>G NP_001394660.1:p.Ile1344Ser missense NM_001407732.1:c.4031T>G NP_001394661.1:p.Ile1344Ser missense NM_001407733.1:c.4031T>G NP_001394662.1:p.Ile1344Ser missense NM_001407734.1:c.4031T>G NP_001394663.1:p.Ile1344Ser missense NM_001407735.1:c.4031T>G NP_001394664.1:p.Ile1344Ser missense NM_001407736.1:c.4031T>G NP_001394665.1:p.Ile1344Ser missense NM_001407737.1:c.4031T>G NP_001394666.1:p.Ile1344Ser missense NM_001407738.1:c.4031T>G NP_001394667.1:p.Ile1344Ser missense NM_001407739.1:c.4031T>G NP_001394668.1:p.Ile1344Ser missense NM_001407740.1:c.4028T>G NP_001394669.1:p.Ile1343Ser missense NM_001407741.1:c.4028T>G NP_001394670.1:p.Ile1343Ser missense NM_001407742.1:c.4028T>G NP_001394671.1:p.Ile1343Ser missense NM_001407743.1:c.4028T>G NP_001394672.1:p.Ile1343Ser missense NM_001407744.1:c.4028T>G NP_001394673.1:p.Ile1343Ser missense NM_001407745.1:c.4028T>G NP_001394674.1:p.Ile1343Ser missense NM_001407746.1:c.4028T>G NP_001394675.1:p.Ile1343Ser missense NM_001407747.1:c.4028T>G NP_001394676.1:p.Ile1343Ser missense NM_001407748.1:c.4028T>G NP_001394677.1:p.Ile1343Ser missense NM_001407749.1:c.4028T>G NP_001394678.1:p.Ile1343Ser missense NM_001407750.1:c.4031T>G NP_001394679.1:p.Ile1344Ser missense NM_001407751.1:c.4031T>G NP_001394680.1:p.Ile1344Ser missense NM_001407752.1:c.4031T>G NP_001394681.1:p.Ile1344Ser missense NM_001407838.1:c.4028T>G NP_001394767.1:p.Ile1343Ser missense NM_001407839.1:c.4028T>G NP_001394768.1:p.Ile1343Ser missense NM_001407841.1:c.4028T>G NP_001394770.1:p.Ile1343Ser missense NM_001407842.1:c.4028T>G NP_001394771.1:p.Ile1343Ser missense NM_001407843.1:c.4028T>G NP_001394772.1:p.Ile1343Ser missense NM_001407844.1:c.4028T>G NP_001394773.1:p.Ile1343Ser missense NM_001407845.1:c.4028T>G NP_001394774.1:p.Ile1343Ser missense NM_001407846.1:c.4028T>G NP_001394775.1:p.Ile1343Ser missense NM_001407847.1:c.4028T>G NP_001394776.1:p.Ile1343Ser missense NM_001407848.1:c.4028T>G NP_001394777.1:p.Ile1343Ser missense NM_001407849.1:c.4028T>G NP_001394778.1:p.Ile1343Ser missense NM_001407850.1:c.4031T>G NP_001394779.1:p.Ile1344Ser missense NM_001407851.1:c.4031T>G NP_001394780.1:p.Ile1344Ser missense NM_001407852.1:c.4031T>G NP_001394781.1:p.Ile1344Ser missense NM_001407853.1:c.3959T>G NP_001394782.1:p.Ile1320Ser missense NM_001407854.1:c.4172T>G NP_001394783.1:p.Ile1391Ser missense NM_001407858.1:c.4172T>G NP_001394787.1:p.Ile1391Ser missense NM_001407859.1:c.4172T>G NP_001394788.1:p.Ile1391Ser missense NM_001407860.1:c.4169T>G NP_001394789.1:p.Ile1390Ser missense NM_001407861.1:c.4169T>G NP_001394790.1:p.Ile1390Ser missense NM_001407862.1:c.3971T>G NP_001394791.1:p.Ile1324Ser missense NM_001407863.1:c.4049T>G NP_001394792.1:p.Ile1350Ser missense NM_001407874.1:c.3968T>G NP_001394803.1:p.Ile1323Ser missense NM_001407875.1:c.3968T>G NP_001394804.1:p.Ile1323Ser missense NM_001407879.1:c.3962T>G NP_001394808.1:p.Ile1321Ser missense NM_001407881.1:c.3962T>G NP_001394810.1:p.Ile1321Ser missense NM_001407882.1:c.3962T>G NP_001394811.1:p.Ile1321Ser missense NM_001407884.1:c.3962T>G NP_001394813.1:p.Ile1321Ser missense NM_001407885.1:c.3962T>G NP_001394814.1:p.Ile1321Ser missense NM_001407886.1:c.3962T>G NP_001394815.1:p.Ile1321Ser missense NM_001407887.1:c.3962T>G NP_001394816.1:p.Ile1321Ser missense NM_001407889.1:c.3962T>G NP_001394818.1:p.Ile1321Ser missense NM_001407894.1:c.3959T>G NP_001394823.1:p.Ile1320Ser missense NM_001407895.1:c.3959T>G NP_001394824.1:p.Ile1320Ser missense NM_001407896.1:c.3959T>G NP_001394825.1:p.Ile1320Ser missense NM_001407897.1:c.3959T>G NP_001394826.1:p.Ile1320Ser missense NM_001407898.1:c.3959T>G NP_001394827.1:p.Ile1320Ser missense NM_001407899.1:c.3959T>G NP_001394828.1:p.Ile1320Ser missense NM_001407900.1:c.3962T>G NP_001394829.1:p.Ile1321Ser missense NM_001407902.1:c.3962T>G NP_001394831.1:p.Ile1321Ser missense NM_001407904.1:c.3962T>G NP_001394833.1:p.Ile1321Ser missense NM_001407906.1:c.3962T>G NP_001394835.1:p.Ile1321Ser missense NM_001407907.1:c.3962T>G NP_001394836.1:p.Ile1321Ser missense NM_001407908.1:c.3962T>G NP_001394837.1:p.Ile1321Ser missense NM_001407909.1:c.3962T>G NP_001394838.1:p.Ile1321Ser missense NM_001407910.1:c.3962T>G NP_001394839.1:p.Ile1321Ser missense NM_001407915.1:c.3959T>G NP_001394844.1:p.Ile1320Ser missense NM_001407916.1:c.3959T>G NP_001394845.1:p.Ile1320Ser missense NM_001407917.1:c.3959T>G NP_001394846.1:p.Ile1320Ser missense NM_001407918.1:c.3959T>G NP_001394847.1:p.Ile1320Ser missense NM_001407919.1:c.4049T>G NP_001394848.1:p.Ile1350Ser missense NM_001407920.1:c.3908T>G NP_001394849.1:p.Ile1303Ser missense NM_001407921.1:c.3908T>G NP_001394850.1:p.Ile1303Ser missense NM_001407922.1:c.3908T>G NP_001394851.1:p.Ile1303Ser missense NM_001407923.1:c.3908T>G NP_001394852.1:p.Ile1303Ser missense NM_001407924.1:c.3908T>G NP_001394853.1:p.Ile1303Ser missense NM_001407925.1:c.3908T>G NP_001394854.1:p.Ile1303Ser missense NM_001407926.1:c.3908T>G NP_001394855.1:p.Ile1303Ser missense NM_001407927.1:c.3908T>G NP_001394856.1:p.Ile1303Ser missense NM_001407928.1:c.3908T>G NP_001394857.1:p.Ile1303Ser missense NM_001407929.1:c.3908T>G NP_001394858.1:p.Ile1303Ser missense NM_001407930.1:c.3905T>G NP_001394859.1:p.Ile1302Ser missense NM_001407931.1:c.3905T>G NP_001394860.1:p.Ile1302Ser missense NM_001407932.1:c.3905T>G NP_001394861.1:p.Ile1302Ser missense NM_001407933.1:c.3908T>G NP_001394862.1:p.Ile1303Ser missense NM_001407934.1:c.3905T>G NP_001394863.1:p.Ile1302Ser missense NM_001407935.1:c.3908T>G NP_001394864.1:p.Ile1303Ser missense NM_001407936.1:c.3905T>G NP_001394865.1:p.Ile1302Ser missense NM_001407937.1:c.4049T>G NP_001394866.1:p.Ile1350Ser missense NM_001407938.1:c.4049T>G NP_001394867.1:p.Ile1350Ser missense NM_001407939.1:c.4049T>G NP_001394868.1:p.Ile1350Ser missense NM_001407940.1:c.4046T>G NP_001394869.1:p.Ile1349Ser missense NM_001407941.1:c.4046T>G NP_001394870.1:p.Ile1349Ser missense NM_001407942.1:c.4031T>G NP_001394871.1:p.Ile1344Ser missense NM_001407943.1:c.4028T>G NP_001394872.1:p.Ile1343Ser missense NM_001407944.1:c.4031T>G NP_001394873.1:p.Ile1344Ser missense NM_001407945.1:c.4031T>G NP_001394874.1:p.Ile1344Ser missense NM_001407946.1:c.3839T>G NP_001394875.1:p.Ile1280Ser missense NM_001407947.1:c.3839T>G NP_001394876.1:p.Ile1280Ser missense NM_001407948.1:c.3839T>G NP_001394877.1:p.Ile1280Ser missense NM_001407949.1:c.3839T>G NP_001394878.1:p.Ile1280Ser missense NM_001407950.1:c.3839T>G NP_001394879.1:p.Ile1280Ser missense NM_001407951.1:c.3839T>G NP_001394880.1:p.Ile1280Ser missense NM_001407952.1:c.3839T>G NP_001394881.1:p.Ile1280Ser missense NM_001407953.1:c.3839T>G NP_001394882.1:p.Ile1280Ser missense NM_001407954.1:c.3836T>G NP_001394883.1:p.Ile1279Ser missense NM_001407955.1:c.3836T>G NP_001394884.1:p.Ile1279Ser missense NM_001407956.1:c.3836T>G NP_001394885.1:p.Ile1279Ser missense NM_001407957.1:c.3839T>G NP_001394886.1:p.Ile1280Ser missense NM_001407958.1:c.3836T>G NP_001394887.1:p.Ile1279Ser missense NM_001407959.1:c.3791T>G NP_001394888.1:p.Ile1264Ser missense NM_001407960.1:c.3791T>G NP_001394889.1:p.Ile1264Ser missense NM_001407962.1:c.3788T>G NP_001394891.1:p.Ile1263Ser missense NM_001407963.1:c.3791T>G NP_001394892.1:p.Ile1264Ser missense NM_001407964.1:c.4028T>G NP_001394893.1:p.Ile1343Ser missense NM_001407965.1:c.3668T>G NP_001394894.1:p.Ile1223Ser missense NM_001407966.1:c.3284T>G NP_001394895.1:p.Ile1095Ser missense NM_001407967.1:c.3284T>G NP_001394896.1:p.Ile1095Ser missense NM_001407968.1:c.1568T>G NP_001394897.1:p.Ile523Ser missense NM_001407969.1:c.1568T>G NP_001394898.1:p.Ile523Ser missense NM_001407970.1:c.863T>G NP_001394899.1:p.Ile288Ser missense NM_001407971.1:c.863T>G NP_001394900.1:p.Ile288Ser missense NM_001407972.1:c.860T>G NP_001394901.1:p.Ile287Ser missense NM_001407973.1:c.863T>G NP_001394902.1:p.Ile288Ser missense NM_001407974.1:c.863T>G NP_001394903.1:p.Ile288Ser missense NM_001407975.1:c.863T>G NP_001394904.1:p.Ile288Ser missense NM_001407976.1:c.863T>G NP_001394905.1:p.Ile288Ser missense NM_001407977.1:c.863T>G NP_001394906.1:p.Ile288Ser missense NM_001407978.1:c.863T>G NP_001394907.1:p.Ile288Ser missense NM_001407979.1:c.863T>G NP_001394908.1:p.Ile288Ser missense NM_001407980.1:c.863T>G NP_001394909.1:p.Ile288Ser missense NM_001407981.1:c.863T>G NP_001394910.1:p.Ile288Ser missense NM_001407982.1:c.863T>G NP_001394911.1:p.Ile288Ser missense NM_001407983.1:c.863T>G NP_001394912.1:p.Ile288Ser missense NM_001407984.1:c.860T>G NP_001394913.1:p.Ile287Ser missense NM_001407985.1:c.860T>G NP_001394914.1:p.Ile287Ser missense NM_001407986.1:c.860T>G NP_001394915.1:p.Ile287Ser missense NM_001407990.1:c.863T>G NP_001394919.1:p.Ile288Ser missense NM_001407991.1:c.860T>G NP_001394920.1:p.Ile287Ser missense NM_001407992.1:c.860T>G NP_001394921.1:p.Ile287Ser missense NM_001407993.1:c.863T>G NP_001394922.1:p.Ile288Ser missense NM_001408392.1:c.860T>G NP_001395321.1:p.Ile287Ser missense NM_001408396.1:c.860T>G NP_001395325.1:p.Ile287Ser missense NM_001408397.1:c.860T>G NP_001395326.1:p.Ile287Ser missense NM_001408398.1:c.860T>G NP_001395327.1:p.Ile287Ser missense NM_001408399.1:c.860T>G NP_001395328.1:p.Ile287Ser missense NM_001408400.1:c.860T>G NP_001395329.1:p.Ile287Ser missense NM_001408401.1:c.860T>G NP_001395330.1:p.Ile287Ser missense NM_001408402.1:c.860T>G NP_001395331.1:p.Ile287Ser missense NM_001408403.1:c.863T>G NP_001395332.1:p.Ile288Ser missense NM_001408404.1:c.863T>G NP_001395333.1:p.Ile288Ser missense NM_001408406.1:c.857T>G NP_001395335.1:p.Ile286Ser missense NM_001408407.1:c.860T>G NP_001395336.1:p.Ile287Ser missense NM_001408408.1:c.854T>G NP_001395337.1:p.Ile285Ser missense NM_001408409.1:c.785T>G NP_001395338.1:p.Ile262Ser missense NM_001408410.1:c.722T>G NP_001395339.1:p.Ile241Ser missense NM_001408411.1:c.785T>G NP_001395340.1:p.Ile262Ser missense NM_001408412.1:c.785T>G NP_001395341.1:p.Ile262Ser missense NM_001408413.1:c.782T>G NP_001395342.1:p.Ile261Ser missense NM_001408414.1:c.785T>G NP_001395343.1:p.Ile262Ser missense NM_001408415.1:c.785T>G NP_001395344.1:p.Ile262Ser missense NM_001408416.1:c.782T>G NP_001395345.1:p.Ile261Ser missense NM_001408418.1:c.746T>G NP_001395347.1:p.Ile249Ser missense NM_001408419.1:c.746T>G NP_001395348.1:p.Ile249Ser missense NM_001408420.1:c.746T>G NP_001395349.1:p.Ile249Ser missense NM_001408421.1:c.743T>G NP_001395350.1:p.Ile248Ser missense NM_001408422.1:c.746T>G NP_001395351.1:p.Ile249Ser missense NM_001408423.1:c.746T>G NP_001395352.1:p.Ile249Ser missense NM_001408424.1:c.743T>G NP_001395353.1:p.Ile248Ser missense NM_001408425.1:c.740T>G NP_001395354.1:p.Ile247Ser missense NM_001408426.1:c.740T>G NP_001395355.1:p.Ile247Ser missense NM_001408427.1:c.740T>G NP_001395356.1:p.Ile247Ser missense NM_001408428.1:c.740T>G NP_001395357.1:p.Ile247Ser missense NM_001408429.1:c.740T>G NP_001395358.1:p.Ile247Ser missense NM_001408430.1:c.740T>G NP_001395359.1:p.Ile247Ser missense NM_001408431.1:c.743T>G NP_001395360.1:p.Ile248Ser missense NM_001408432.1:c.737T>G NP_001395361.1:p.Ile246Ser missense NM_001408433.1:c.737T>G NP_001395362.1:p.Ile246Ser missense NM_001408434.1:c.737T>G NP_001395363.1:p.Ile246Ser missense NM_001408435.1:c.737T>G NP_001395364.1:p.Ile246Ser missense NM_001408436.1:c.740T>G NP_001395365.1:p.Ile247Ser missense NM_001408437.1:c.740T>G NP_001395366.1:p.Ile247Ser missense NM_001408438.1:c.740T>G NP_001395367.1:p.Ile247Ser missense NM_001408439.1:c.740T>G NP_001395368.1:p.Ile247Ser missense NM_001408440.1:c.740T>G NP_001395369.1:p.Ile247Ser missense NM_001408441.1:c.740T>G NP_001395370.1:p.Ile247Ser missense NM_001408442.1:c.740T>G NP_001395371.1:p.Ile247Ser missense NM_001408443.1:c.740T>G NP_001395372.1:p.Ile247Ser missense NM_001408444.1:c.740T>G NP_001395373.1:p.Ile247Ser missense NM_001408445.1:c.737T>G NP_001395374.1:p.Ile246Ser missense NM_001408446.1:c.737T>G NP_001395375.1:p.Ile246Ser missense NM_001408447.1:c.737T>G NP_001395376.1:p.Ile246Ser missense NM_001408448.1:c.737T>G NP_001395377.1:p.Ile246Ser missense NM_001408450.1:c.737T>G NP_001395379.1:p.Ile246Ser missense NM_001408451.1:c.728T>G NP_001395380.1:p.Ile243Ser missense NM_001408452.1:c.722T>G NP_001395381.1:p.Ile241Ser missense NM_001408453.1:c.722T>G NP_001395382.1:p.Ile241Ser missense NM_001408454.1:c.722T>G NP_001395383.1:p.Ile241Ser missense NM_001408455.1:c.722T>G NP_001395384.1:p.Ile241Ser missense NM_001408456.1:c.722T>G NP_001395385.1:p.Ile241Ser missense NM_001408457.1:c.722T>G NP_001395386.1:p.Ile241Ser missense NM_001408458.1:c.722T>G NP_001395387.1:p.Ile241Ser missense NM_001408459.1:c.722T>G NP_001395388.1:p.Ile241Ser missense NM_001408460.1:c.722T>G NP_001395389.1:p.Ile241Ser missense NM_001408461.1:c.722T>G NP_001395390.1:p.Ile241Ser missense NM_001408462.1:c.719T>G NP_001395391.1:p.Ile240Ser missense NM_001408463.1:c.719T>G NP_001395392.1:p.Ile240Ser missense NM_001408464.1:c.719T>G NP_001395393.1:p.Ile240Ser missense NM_001408465.1:c.719T>G NP_001395394.1:p.Ile240Ser missense NM_001408466.1:c.722T>G NP_001395395.1:p.Ile241Ser missense NM_001408467.1:c.722T>G NP_001395396.1:p.Ile241Ser missense NM_001408468.1:c.719T>G NP_001395397.1:p.Ile240Ser missense NM_001408469.1:c.722T>G NP_001395398.1:p.Ile241Ser missense NM_001408470.1:c.719T>G NP_001395399.1:p.Ile240Ser missense NM_001408472.1:c.863T>G NP_001395401.1:p.Ile288Ser missense NM_001408473.1:c.860T>G NP_001395402.1:p.Ile287Ser missense NM_001408474.1:c.662T>G NP_001395403.1:p.Ile221Ser missense NM_001408475.1:c.659T>G NP_001395404.1:p.Ile220Ser missense NM_001408476.1:c.662T>G NP_001395405.1:p.Ile221Ser missense NM_001408478.1:c.653T>G NP_001395407.1:p.Ile218Ser missense NM_001408479.1:c.653T>G NP_001395408.1:p.Ile218Ser missense NM_001408480.1:c.653T>G NP_001395409.1:p.Ile218Ser missense NM_001408481.1:c.653T>G NP_001395410.1:p.Ile218Ser missense NM_001408482.1:c.653T>G NP_001395411.1:p.Ile218Ser missense NM_001408483.1:c.653T>G NP_001395412.1:p.Ile218Ser missense NM_001408484.1:c.653T>G NP_001395413.1:p.Ile218Ser missense NM_001408485.1:c.653T>G NP_001395414.1:p.Ile218Ser missense NM_001408489.1:c.653T>G NP_001395418.1:p.Ile218Ser missense NM_001408490.1:c.650T>G NP_001395419.1:p.Ile217Ser missense NM_001408491.1:c.650T>G NP_001395420.1:p.Ile217Ser missense NM_001408492.1:c.653T>G NP_001395421.1:p.Ile218Ser missense NM_001408493.1:c.650T>G NP_001395422.1:p.Ile217Ser missense NM_001408494.1:c.623T>G NP_001395423.1:p.Ile208Ser missense NM_001408495.1:c.620T>G NP_001395424.1:p.Ile207Ser missense NM_001408496.1:c.599T>G NP_001395425.1:p.Ile200Ser missense NM_001408497.1:c.599T>G NP_001395426.1:p.Ile200Ser missense NM_001408498.1:c.599T>G NP_001395427.1:p.Ile200Ser missense NM_001408499.1:c.599T>G NP_001395428.1:p.Ile200Ser missense NM_001408500.1:c.599T>G NP_001395429.1:p.Ile200Ser missense NM_001408501.1:c.599T>G NP_001395430.1:p.Ile200Ser missense NM_001408502.1:c.530T>G NP_001395431.1:p.Ile177Ser missense NM_001408503.1:c.596T>G NP_001395432.1:p.Ile199Ser missense NM_001408504.1:c.596T>G NP_001395433.1:p.Ile199Ser missense NM_001408505.1:c.596T>G NP_001395434.1:p.Ile199Ser missense NM_001408506.1:c.536T>G NP_001395435.1:p.Ile179Ser missense NM_001408507.1:c.536T>G NP_001395436.1:p.Ile179Ser missense NM_001408508.1:c.527T>G NP_001395437.1:p.Ile176Ser missense NM_001408509.1:c.527T>G NP_001395438.1:p.Ile176Ser missense NM_001408510.1:c.482T>G NP_001395439.1:p.Ile161Ser missense NM_001408511.1:c.479T>G NP_001395440.1:p.Ile160Ser missense NM_001408512.1:c.359T>G NP_001395441.1:p.Ile120Ser missense NM_001408513.1:c.653T>G NP_001395442.1:p.Ile218Ser missense NM_001408514.1:c.653T>G NP_001395443.1:p.Ile218Ser missense NM_007297.4:c.4031T>G NP_009228.2:p.Ile1344Ser missense NM_007298.4:c.863T>G NP_009229.2:p.Ile288Ser missense NM_007299.4:c.863T>G NP_009230.2:p.Ile288Ser missense NM_007300.4:c.4172T>G NP_009231.2:p.Ile1391Ser missense NM_007304.2:c.863T>G NP_009235.2:p.Ile288Ser missense NR_027676.2:n.4349T>G non-coding transcript variant NC_000017.11:g.43090957A>C NC_000017.10:g.41242974A>C NG_005905.2:g.127027T>G LRG_292:g.127027T>G LRG_292t1:c.4172T>G LRG_292p1:p.Ile1391Ser - Protein change
- I1391S, I1344S, I288S, I1095S, I1279S, I1388S, I179S, I217S, I220S, I241S, I261S, I262S, I1264S, I1320S, I1324S, I1364S, I176S, I218S, I221S, I243S, I286S, I287S, I523S, I120S, I1223S, I1302S, I1343S, I1350S, I1390S, I160S, I177S, I199S, I207S, I208S, I240S, I247S, I249S, I1263S, I1280S, I1303S, I1321S, I1323S, I1349S, I1365S, I161S, I200S, I246S, I248S, I285S
- Other names
- -
- Canonical SPDI
- NC_000017.11:43090956:A:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Jun 5, 2017 | RCV000529227.8 |
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
(Jun 05, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000635949.4
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This variant has not been reported in the literature in individuals with a BRCA1-related disease. In summary, this variant has uncertain impact on BRCA1 function. … (more)
This variant has not been reported in the literature in individuals with a BRCA1-related disease. In summary, this variant has uncertain impact on BRCA1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Benign"; Align-GVGD: "Class C35"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with serine at codon 1391 of the BRCA1 protein (p.Ile1391Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine. (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:
This variant has not been reported in the literature in individuals with a BRCA1-related disease. In summary, this variant has uncertain impact on BRCA1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Benign"; Align-GVGD: "Class C35"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with serine at codon 1391 of the BRCA1 protein (p.Ile1391Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine.
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 rs397509146 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 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.