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 missense change has been observed in individual(s) with ovarian cancer (PMID: 10196379). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1406 of the BRCA1 protein (p.Lys1406Asn).
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4218G>C (p.Lys1406Asn)
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.4218G>C (p.Lys1406Asn)
Variation ID: 2731680 Accession: VCV002731680.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082543 (GRCh38) [ NCBI UCSC ] 17: 41234560 (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 Feb 14, 2024 Feb 14, 2024 Mar 7, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4218G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1406Asn missense NM_001407571.1:c.4005G>C NP_001394500.1:p.Lys1335Asn missense NM_001407581.1:c.4218G>C NP_001394510.1:p.Lys1406Asn missense NM_001407582.1:c.4218G>C NP_001394511.1:p.Lys1406Asn missense NM_001407583.1:c.4218G>C NP_001394512.1:p.Lys1406Asn missense NM_001407585.1:c.4218G>C NP_001394514.1:p.Lys1406Asn missense NM_001407587.1:c.4215G>C NP_001394516.1:p.Lys1405Asn missense NM_001407590.1:c.4215G>C NP_001394519.1:p.Lys1405Asn missense NM_001407591.1:c.4215G>C NP_001394520.1:p.Lys1405Asn missense NM_001407593.1:c.4218G>C NP_001394522.1:p.Lys1406Asn missense NM_001407594.1:c.4218G>C NP_001394523.1:p.Lys1406Asn missense NM_001407596.1:c.4218G>C NP_001394525.1:p.Lys1406Asn missense NM_001407597.1:c.4218G>C NP_001394526.1:p.Lys1406Asn missense NM_001407598.1:c.4218G>C NP_001394527.1:p.Lys1406Asn missense NM_001407602.1:c.4218G>C NP_001394531.1:p.Lys1406Asn missense NM_001407603.1:c.4218G>C NP_001394532.1:p.Lys1406Asn missense NM_001407605.1:c.4218G>C NP_001394534.1:p.Lys1406Asn missense NM_001407610.1:c.4215G>C NP_001394539.1:p.Lys1405Asn missense NM_001407611.1:c.4215G>C NP_001394540.1:p.Lys1405Asn missense NM_001407612.1:c.4215G>C NP_001394541.1:p.Lys1405Asn missense NM_001407613.1:c.4215G>C NP_001394542.1:p.Lys1405Asn missense NM_001407614.1:c.4215G>C NP_001394543.1:p.Lys1405Asn missense NM_001407615.1:c.4215G>C NP_001394544.1:p.Lys1405Asn missense NM_001407616.1:c.4218G>C NP_001394545.1:p.Lys1406Asn missense NM_001407617.1:c.4218G>C NP_001394546.1:p.Lys1406Asn missense NM_001407618.1:c.4218G>C NP_001394547.1:p.Lys1406Asn missense NM_001407619.1:c.4218G>C NP_001394548.1:p.Lys1406Asn missense NM_001407620.1:c.4218G>C NP_001394549.1:p.Lys1406Asn missense NM_001407621.1:c.4218G>C NP_001394550.1:p.Lys1406Asn missense NM_001407622.1:c.4218G>C NP_001394551.1:p.Lys1406Asn missense NM_001407623.1:c.4218G>C NP_001394552.1:p.Lys1406Asn missense NM_001407624.1:c.4215G>C NP_001394553.1:p.Lys1405Asn missense NM_001407625.1:c.4215G>C NP_001394554.1:p.Lys1405Asn missense NM_001407626.1:c.4215G>C NP_001394555.1:p.Lys1405Asn missense NM_001407627.1:c.4212G>C NP_001394556.1:p.Lys1404Asn missense NM_001407628.1:c.4212G>C NP_001394557.1:p.Lys1404Asn missense NM_001407629.1:c.4212G>C NP_001394558.1:p.Lys1404Asn missense NM_001407630.1:c.4212G>C NP_001394559.1:p.Lys1404Asn missense NM_001407631.1:c.4212G>C NP_001394560.1:p.Lys1404Asn missense NM_001407632.1:c.4212G>C NP_001394561.1:p.Lys1404Asn missense NM_001407633.1:c.4215G>C NP_001394562.1:p.Lys1405Asn missense NM_001407634.1:c.4215G>C NP_001394563.1:p.Lys1405Asn missense NM_001407635.1:c.4215G>C NP_001394564.1:p.Lys1405Asn missense NM_001407636.1:c.4215G>C NP_001394565.1:p.Lys1405Asn missense NM_001407637.1:c.4215G>C NP_001394566.1:p.Lys1405Asn missense NM_001407638.1:c.4215G>C NP_001394567.1:p.Lys1405Asn missense NM_001407639.1:c.4215G>C NP_001394568.1:p.Lys1405Asn missense NM_001407640.1:c.4215G>C NP_001394569.1:p.Lys1405Asn missense NM_001407641.1:c.4215G>C NP_001394570.1:p.Lys1405Asn missense NM_001407642.1:c.4215G>C NP_001394571.1:p.Lys1405Asn missense NM_001407644.1:c.4212G>C NP_001394573.1:p.Lys1404Asn missense NM_001407645.1:c.4212G>C NP_001394574.1:p.Lys1404Asn missense NM_001407646.1:c.4206G>C NP_001394575.1:p.Lys1402Asn missense NM_001407647.1:c.4206G>C NP_001394576.1:p.Lys1402Asn missense NM_001407648.1:c.4095G>C NP_001394577.1:p.Lys1365Asn missense NM_001407649.1:c.4092G>C NP_001394578.1:p.Lys1364Asn missense NM_001407652.1:c.4218G>C NP_001394581.1:p.Lys1406Asn missense NM_001407653.1:c.4140G>C NP_001394582.1:p.Lys1380Asn missense NM_001407654.1:c.4140G>C NP_001394583.1:p.Lys1380Asn missense NM_001407655.1:c.4140G>C NP_001394584.1:p.Lys1380Asn missense NM_001407656.1:c.4137G>C NP_001394585.1:p.Lys1379Asn missense NM_001407657.1:c.4140G>C NP_001394586.1:p.Lys1380Asn missense NM_001407658.1:c.4140G>C NP_001394587.1:p.Lys1380Asn missense NM_001407659.1:c.4134G>C NP_001394588.1:p.Lys1378Asn missense NM_001407660.1:c.4134G>C NP_001394589.1:p.Lys1378Asn missense NM_001407661.1:c.4137G>C NP_001394590.1:p.Lys1379Asn missense NM_001407662.1:c.4137G>C NP_001394591.1:p.Lys1379Asn missense NM_001407663.1:c.4137G>C NP_001394592.1:p.Lys1379Asn missense NM_001407664.1:c.4095G>C NP_001394593.1:p.Lys1365Asn missense NM_001407665.1:c.4095G>C NP_001394594.1:p.Lys1365Asn missense NM_001407666.1:c.4095G>C NP_001394595.1:p.Lys1365Asn missense NM_001407667.1:c.4095G>C NP_001394596.1:p.Lys1365Asn missense NM_001407668.1:c.4095G>C NP_001394597.1:p.Lys1365Asn missense NM_001407669.1:c.4095G>C NP_001394598.1:p.Lys1365Asn missense NM_001407670.1:c.4092G>C NP_001394599.1:p.Lys1364Asn missense NM_001407671.1:c.4092G>C NP_001394600.1:p.Lys1364Asn missense NM_001407672.1:c.4092G>C NP_001394601.1:p.Lys1364Asn missense NM_001407673.1:c.4092G>C NP_001394602.1:p.Lys1364Asn missense NM_001407674.1:c.4092G>C NP_001394603.1:p.Lys1364Asn missense NM_001407675.1:c.4092G>C NP_001394604.1:p.Lys1364Asn missense NM_001407676.1:c.4092G>C NP_001394605.1:p.Lys1364Asn missense NM_001407677.1:c.4095G>C NP_001394606.1:p.Lys1365Asn missense NM_001407678.1:c.4095G>C NP_001394607.1:p.Lys1365Asn missense NM_001407679.1:c.4095G>C NP_001394608.1:p.Lys1365Asn missense NM_001407680.1:c.4095G>C NP_001394609.1:p.Lys1365Asn missense NM_001407681.1:c.4092G>C NP_001394610.1:p.Lys1364Asn missense NM_001407682.1:c.4092G>C NP_001394611.1:p.Lys1364Asn missense NM_001407683.1:c.4092G>C NP_001394612.1:p.Lys1364Asn missense NM_001407684.1:c.4218G>C NP_001394613.1:p.Lys1406Asn missense NM_001407685.1:c.4089G>C NP_001394614.1:p.Lys1363Asn missense NM_001407686.1:c.4089G>C NP_001394615.1:p.Lys1363Asn missense NM_001407687.1:c.4089G>C NP_001394616.1:p.Lys1363Asn missense NM_001407688.1:c.4092G>C NP_001394617.1:p.Lys1364Asn missense NM_001407689.1:c.4092G>C NP_001394618.1:p.Lys1364Asn missense NM_001407690.1:c.4089G>C NP_001394619.1:p.Lys1363Asn missense NM_001407691.1:c.4089G>C NP_001394620.1:p.Lys1363Asn missense NM_001407692.1:c.4077G>C NP_001394621.1:p.Lys1359Asn missense NM_001407694.1:c.4077G>C NP_001394623.1:p.Lys1359Asn missense NM_001407695.1:c.4077G>C NP_001394624.1:p.Lys1359Asn missense NM_001407696.1:c.4077G>C NP_001394625.1:p.Lys1359Asn missense NM_001407697.1:c.4077G>C NP_001394626.1:p.Lys1359Asn missense NM_001407698.1:c.4077G>C NP_001394627.1:p.Lys1359Asn missense NM_001407724.1:c.4077G>C NP_001394653.1:p.Lys1359Asn missense NM_001407725.1:c.4077G>C NP_001394654.1:p.Lys1359Asn missense NM_001407726.1:c.4077G>C NP_001394655.1:p.Lys1359Asn missense NM_001407727.1:c.4077G>C NP_001394656.1:p.Lys1359Asn missense NM_001407728.1:c.4077G>C NP_001394657.1:p.Lys1359Asn missense NM_001407729.1:c.4077G>C NP_001394658.1:p.Lys1359Asn missense NM_001407730.1:c.4077G>C NP_001394659.1:p.Lys1359Asn missense NM_001407731.1:c.4077G>C NP_001394660.1:p.Lys1359Asn missense NM_001407732.1:c.4077G>C NP_001394661.1:p.Lys1359Asn missense NM_001407733.1:c.4077G>C NP_001394662.1:p.Lys1359Asn missense NM_001407734.1:c.4077G>C NP_001394663.1:p.Lys1359Asn missense NM_001407735.1:c.4077G>C NP_001394664.1:p.Lys1359Asn missense NM_001407736.1:c.4077G>C NP_001394665.1:p.Lys1359Asn missense NM_001407737.1:c.4077G>C NP_001394666.1:p.Lys1359Asn missense NM_001407738.1:c.4077G>C NP_001394667.1:p.Lys1359Asn missense NM_001407739.1:c.4077G>C NP_001394668.1:p.Lys1359Asn missense NM_001407740.1:c.4074G>C NP_001394669.1:p.Lys1358Asn missense NM_001407741.1:c.4074G>C NP_001394670.1:p.Lys1358Asn missense NM_001407742.1:c.4074G>C NP_001394671.1:p.Lys1358Asn missense NM_001407743.1:c.4074G>C NP_001394672.1:p.Lys1358Asn missense NM_001407744.1:c.4074G>C NP_001394673.1:p.Lys1358Asn missense NM_001407745.1:c.4074G>C NP_001394674.1:p.Lys1358Asn missense NM_001407746.1:c.4074G>C NP_001394675.1:p.Lys1358Asn missense NM_001407747.1:c.4074G>C NP_001394676.1:p.Lys1358Asn missense NM_001407748.1:c.4074G>C NP_001394677.1:p.Lys1358Asn missense NM_001407749.1:c.4074G>C NP_001394678.1:p.Lys1358Asn missense NM_001407750.1:c.4074G>C NP_001394679.1:p.Lys1358Asn missense NM_001407751.1:c.4074G>C NP_001394680.1:p.Lys1358Asn missense NM_001407752.1:c.4074G>C NP_001394681.1:p.Lys1358Asn missense NM_001407838.1:c.4074G>C NP_001394767.1:p.Lys1358Asn missense NM_001407839.1:c.4074G>C NP_001394768.1:p.Lys1358Asn missense NM_001407841.1:c.4074G>C NP_001394770.1:p.Lys1358Asn missense NM_001407842.1:c.4074G>C NP_001394771.1:p.Lys1358Asn missense NM_001407843.1:c.4074G>C NP_001394772.1:p.Lys1358Asn missense NM_001407844.1:c.4074G>C NP_001394773.1:p.Lys1358Asn missense NM_001407845.1:c.4074G>C NP_001394774.1:p.Lys1358Asn missense NM_001407846.1:c.4074G>C NP_001394775.1:p.Lys1358Asn missense NM_001407847.1:c.4071G>C NP_001394776.1:p.Lys1357Asn missense NM_001407848.1:c.4071G>C NP_001394777.1:p.Lys1357Asn missense NM_001407849.1:c.4071G>C NP_001394778.1:p.Lys1357Asn missense NM_001407850.1:c.4074G>C NP_001394779.1:p.Lys1358Asn missense NM_001407851.1:c.4074G>C NP_001394780.1:p.Lys1358Asn missense NM_001407852.1:c.4074G>C NP_001394781.1:p.Lys1358Asn missense NM_001407853.1:c.4005G>C NP_001394782.1:p.Lys1335Asn missense NM_001407854.1:c.4218G>C NP_001394783.1:p.Lys1406Asn missense NM_001407858.1:c.4218G>C NP_001394787.1:p.Lys1406Asn missense NM_001407859.1:c.4218G>C NP_001394788.1:p.Lys1406Asn missense NM_001407860.1:c.4215G>C NP_001394789.1:p.Lys1405Asn missense NM_001407861.1:c.4215G>C NP_001394790.1:p.Lys1405Asn missense NM_001407862.1:c.4017G>C NP_001394791.1:p.Lys1339Asn missense NM_001407863.1:c.4095G>C NP_001394792.1:p.Lys1365Asn missense NM_001407874.1:c.4014G>C NP_001394803.1:p.Lys1338Asn missense NM_001407875.1:c.4014G>C NP_001394804.1:p.Lys1338Asn missense NM_001407879.1:c.4008G>C NP_001394808.1:p.Lys1336Asn missense NM_001407881.1:c.4008G>C NP_001394810.1:p.Lys1336Asn missense NM_001407882.1:c.4008G>C NP_001394811.1:p.Lys1336Asn missense NM_001407884.1:c.4008G>C NP_001394813.1:p.Lys1336Asn missense NM_001407885.1:c.4008G>C NP_001394814.1:p.Lys1336Asn missense NM_001407886.1:c.4008G>C NP_001394815.1:p.Lys1336Asn missense NM_001407887.1:c.4008G>C NP_001394816.1:p.Lys1336Asn missense NM_001407889.1:c.4008G>C NP_001394818.1:p.Lys1336Asn missense NM_001407894.1:c.4005G>C NP_001394823.1:p.Lys1335Asn missense NM_001407895.1:c.4005G>C NP_001394824.1:p.Lys1335Asn missense NM_001407896.1:c.4005G>C NP_001394825.1:p.Lys1335Asn missense NM_001407897.1:c.4005G>C NP_001394826.1:p.Lys1335Asn missense NM_001407898.1:c.4005G>C NP_001394827.1:p.Lys1335Asn missense NM_001407899.1:c.4005G>C NP_001394828.1:p.Lys1335Asn missense NM_001407900.1:c.4008G>C NP_001394829.1:p.Lys1336Asn missense NM_001407902.1:c.4008G>C NP_001394831.1:p.Lys1336Asn missense NM_001407904.1:c.4008G>C NP_001394833.1:p.Lys1336Asn missense NM_001407906.1:c.4008G>C NP_001394835.1:p.Lys1336Asn missense NM_001407907.1:c.4005G>C NP_001394836.1:p.Lys1335Asn missense NM_001407908.1:c.4005G>C NP_001394837.1:p.Lys1335Asn missense NM_001407909.1:c.4005G>C NP_001394838.1:p.Lys1335Asn missense NM_001407910.1:c.4005G>C NP_001394839.1:p.Lys1335Asn missense NM_001407915.1:c.4002G>C NP_001394844.1:p.Lys1334Asn missense NM_001407916.1:c.4005G>C NP_001394845.1:p.Lys1335Asn missense NM_001407917.1:c.4005G>C NP_001394846.1:p.Lys1335Asn missense NM_001407918.1:c.4005G>C NP_001394847.1:p.Lys1335Asn missense NM_001407919.1:c.4095G>C NP_001394848.1:p.Lys1365Asn missense NM_001407920.1:c.3954G>C NP_001394849.1:p.Lys1318Asn missense NM_001407921.1:c.3954G>C NP_001394850.1:p.Lys1318Asn missense NM_001407922.1:c.3954G>C NP_001394851.1:p.Lys1318Asn missense NM_001407923.1:c.3954G>C NP_001394852.1:p.Lys1318Asn missense NM_001407924.1:c.3954G>C NP_001394853.1:p.Lys1318Asn missense NM_001407925.1:c.3954G>C NP_001394854.1:p.Lys1318Asn missense NM_001407926.1:c.3954G>C NP_001394855.1:p.Lys1318Asn missense NM_001407927.1:c.3954G>C NP_001394856.1:p.Lys1318Asn missense NM_001407928.1:c.3954G>C NP_001394857.1:p.Lys1318Asn missense NM_001407929.1:c.3954G>C NP_001394858.1:p.Lys1318Asn missense NM_001407930.1:c.3951G>C NP_001394859.1:p.Lys1317Asn missense NM_001407931.1:c.3951G>C NP_001394860.1:p.Lys1317Asn missense NM_001407932.1:c.3951G>C NP_001394861.1:p.Lys1317Asn missense NM_001407933.1:c.3951G>C NP_001394862.1:p.Lys1317Asn missense NM_001407934.1:c.3948G>C NP_001394863.1:p.Lys1316Asn missense NM_001407935.1:c.3951G>C NP_001394864.1:p.Lys1317Asn missense NM_001407936.1:c.3951G>C NP_001394865.1:p.Lys1317Asn missense NM_001407937.1:c.4095G>C NP_001394866.1:p.Lys1365Asn missense NM_001407938.1:c.4095G>C NP_001394867.1:p.Lys1365Asn missense NM_001407939.1:c.4095G>C NP_001394868.1:p.Lys1365Asn missense NM_001407940.1:c.4092G>C NP_001394869.1:p.Lys1364Asn missense NM_001407941.1:c.4092G>C NP_001394870.1:p.Lys1364Asn missense NM_001407942.1:c.4077G>C NP_001394871.1:p.Lys1359Asn missense NM_001407943.1:c.4074G>C NP_001394872.1:p.Lys1358Asn missense NM_001407944.1:c.4077G>C NP_001394873.1:p.Lys1359Asn missense NM_001407945.1:c.4077G>C NP_001394874.1:p.Lys1359Asn missense NM_001407946.1:c.3885G>C NP_001394875.1:p.Lys1295Asn missense NM_001407947.1:c.3885G>C NP_001394876.1:p.Lys1295Asn missense NM_001407948.1:c.3885G>C NP_001394877.1:p.Lys1295Asn missense NM_001407949.1:c.3885G>C NP_001394878.1:p.Lys1295Asn missense NM_001407950.1:c.3885G>C NP_001394879.1:p.Lys1295Asn missense NM_001407951.1:c.3885G>C NP_001394880.1:p.Lys1295Asn missense NM_001407952.1:c.3882G>C NP_001394881.1:p.Lys1294Asn missense NM_001407953.1:c.3882G>C NP_001394882.1:p.Lys1294Asn missense NM_001407954.1:c.3882G>C NP_001394883.1:p.Lys1294Asn missense NM_001407955.1:c.3882G>C NP_001394884.1:p.Lys1294Asn missense NM_001407956.1:c.3879G>C NP_001394885.1:p.Lys1293Asn missense NM_001407957.1:c.3882G>C NP_001394886.1:p.Lys1294Asn missense NM_001407958.1:c.3882G>C NP_001394887.1:p.Lys1294Asn missense NM_001407959.1:c.3837G>C NP_001394888.1:p.Lys1279Asn missense NM_001407960.1:c.3837G>C NP_001394889.1:p.Lys1279Asn missense NM_001407962.1:c.3834G>C NP_001394891.1:p.Lys1278Asn missense NM_001407963.1:c.3834G>C NP_001394892.1:p.Lys1278Asn missense NM_001407964.1:c.4074G>C NP_001394893.1:p.Lys1358Asn missense NM_001407965.1:c.3711G>C NP_001394894.1:p.Lys1237Asn missense NM_001407966.1:c.3330G>C NP_001394895.1:p.Lys1110Asn missense NM_001407967.1:c.3330G>C NP_001394896.1:p.Lys1110Asn missense NM_001407968.1:c.1614G>C NP_001394897.1:p.Lys538Asn missense NM_001407969.1:c.1611G>C NP_001394898.1:p.Lys537Asn missense NM_001407970.1:c.909G>C NP_001394899.1:p.Lys303Asn missense NM_001407971.1:c.909G>C NP_001394900.1:p.Lys303Asn missense NM_001407972.1:c.906G>C NP_001394901.1:p.Lys302Asn missense NM_001407973.1:c.909G>C NP_001394902.1:p.Lys303Asn missense NM_001407974.1:c.909G>C NP_001394903.1:p.Lys303Asn missense NM_001407975.1:c.909G>C NP_001394904.1:p.Lys303Asn missense NM_001407976.1:c.909G>C NP_001394905.1:p.Lys303Asn missense NM_001407977.1:c.909G>C NP_001394906.1:p.Lys303Asn missense NM_001407978.1:c.909G>C NP_001394907.1:p.Lys303Asn missense NM_001407979.1:c.906G>C NP_001394908.1:p.Lys302Asn missense NM_001407980.1:c.906G>C NP_001394909.1:p.Lys302Asn missense NM_001407981.1:c.906G>C NP_001394910.1:p.Lys302Asn missense NM_001407982.1:c.906G>C NP_001394911.1:p.Lys302Asn missense NM_001407983.1:c.906G>C NP_001394912.1:p.Lys302Asn missense NM_001407984.1:c.906G>C NP_001394913.1:p.Lys302Asn missense NM_001407985.1:c.906G>C NP_001394914.1:p.Lys302Asn missense NM_001407986.1:c.906G>C NP_001394915.1:p.Lys302Asn missense NM_001407990.1:c.906G>C NP_001394919.1:p.Lys302Asn missense NM_001407991.1:c.906G>C NP_001394920.1:p.Lys302Asn missense NM_001407992.1:c.906G>C NP_001394921.1:p.Lys302Asn missense NM_001407993.1:c.909G>C NP_001394922.1:p.Lys303Asn missense NM_001408392.1:c.906G>C NP_001395321.1:p.Lys302Asn missense NM_001408396.1:c.906G>C NP_001395325.1:p.Lys302Asn missense NM_001408397.1:c.906G>C NP_001395326.1:p.Lys302Asn missense NM_001408398.1:c.906G>C NP_001395327.1:p.Lys302Asn missense NM_001408399.1:c.906G>C NP_001395328.1:p.Lys302Asn missense NM_001408400.1:c.903G>C NP_001395329.1:p.Lys301Asn missense NM_001408401.1:c.903G>C NP_001395330.1:p.Lys301Asn missense NM_001408402.1:c.903G>C NP_001395331.1:p.Lys301Asn missense NM_001408403.1:c.906G>C NP_001395332.1:p.Lys302Asn missense NM_001408404.1:c.906G>C NP_001395333.1:p.Lys302Asn missense NM_001408406.1:c.900G>C NP_001395335.1:p.Lys300Asn missense NM_001408407.1:c.903G>C NP_001395336.1:p.Lys301Asn missense NM_001408408.1:c.900G>C NP_001395337.1:p.Lys300Asn missense NM_001408409.1:c.831G>C NP_001395338.1:p.Lys277Asn missense NM_001408410.1:c.768G>C NP_001395339.1:p.Lys256Asn missense NM_001408411.1:c.831G>C NP_001395340.1:p.Lys277Asn missense NM_001408412.1:c.831G>C NP_001395341.1:p.Lys277Asn missense NM_001408413.1:c.828G>C NP_001395342.1:p.Lys276Asn missense NM_001408414.1:c.831G>C NP_001395343.1:p.Lys277Asn missense NM_001408415.1:c.831G>C NP_001395344.1:p.Lys277Asn missense NM_001408416.1:c.828G>C NP_001395345.1:p.Lys276Asn missense NM_001408418.1:c.792G>C NP_001395347.1:p.Lys264Asn missense NM_001408419.1:c.792G>C NP_001395348.1:p.Lys264Asn missense NM_001408420.1:c.792G>C NP_001395349.1:p.Lys264Asn missense NM_001408421.1:c.789G>C NP_001395350.1:p.Lys263Asn missense NM_001408422.1:c.792G>C NP_001395351.1:p.Lys264Asn missense NM_001408423.1:c.792G>C NP_001395352.1:p.Lys264Asn missense NM_001408424.1:c.789G>C NP_001395353.1:p.Lys263Asn missense NM_001408425.1:c.786G>C NP_001395354.1:p.Lys262Asn missense NM_001408426.1:c.786G>C NP_001395355.1:p.Lys262Asn missense NM_001408427.1:c.786G>C NP_001395356.1:p.Lys262Asn missense NM_001408428.1:c.786G>C NP_001395357.1:p.Lys262Asn missense NM_001408429.1:c.786G>C NP_001395358.1:p.Lys262Asn missense NM_001408430.1:c.786G>C NP_001395359.1:p.Lys262Asn missense NM_001408431.1:c.789G>C NP_001395360.1:p.Lys263Asn missense NM_001408432.1:c.783G>C NP_001395361.1:p.Lys261Asn missense NM_001408433.1:c.783G>C NP_001395362.1:p.Lys261Asn missense NM_001408434.1:c.783G>C NP_001395363.1:p.Lys261Asn missense NM_001408435.1:c.783G>C NP_001395364.1:p.Lys261Asn missense NM_001408436.1:c.786G>C NP_001395365.1:p.Lys262Asn missense NM_001408437.1:c.786G>C NP_001395366.1:p.Lys262Asn missense NM_001408438.1:c.786G>C NP_001395367.1:p.Lys262Asn missense NM_001408439.1:c.786G>C NP_001395368.1:p.Lys262Asn missense NM_001408440.1:c.786G>C NP_001395369.1:p.Lys262Asn missense NM_001408441.1:c.783G>C NP_001395370.1:p.Lys261Asn missense NM_001408442.1:c.783G>C NP_001395371.1:p.Lys261Asn missense NM_001408443.1:c.783G>C NP_001395372.1:p.Lys261Asn missense NM_001408444.1:c.783G>C NP_001395373.1:p.Lys261Asn missense NM_001408445.1:c.783G>C NP_001395374.1:p.Lys261Asn missense NM_001408446.1:c.783G>C NP_001395375.1:p.Lys261Asn missense NM_001408447.1:c.783G>C NP_001395376.1:p.Lys261Asn missense NM_001408448.1:c.783G>C NP_001395377.1:p.Lys261Asn missense NM_001408450.1:c.783G>C NP_001395379.1:p.Lys261Asn missense NM_001408451.1:c.774G>C NP_001395380.1:p.Lys258Asn missense NM_001408452.1:c.768G>C NP_001395381.1:p.Lys256Asn missense NM_001408453.1:c.768G>C NP_001395382.1:p.Lys256Asn missense NM_001408454.1:c.768G>C NP_001395383.1:p.Lys256Asn missense NM_001408455.1:c.768G>C NP_001395384.1:p.Lys256Asn missense NM_001408456.1:c.768G>C NP_001395385.1:p.Lys256Asn missense NM_001408457.1:c.768G>C NP_001395386.1:p.Lys256Asn missense NM_001408458.1:c.768G>C NP_001395387.1:p.Lys256Asn missense NM_001408459.1:c.768G>C NP_001395388.1:p.Lys256Asn missense NM_001408460.1:c.768G>C NP_001395389.1:p.Lys256Asn missense NM_001408461.1:c.768G>C NP_001395390.1:p.Lys256Asn missense NM_001408462.1:c.765G>C NP_001395391.1:p.Lys255Asn missense NM_001408463.1:c.765G>C NP_001395392.1:p.Lys255Asn missense NM_001408464.1:c.765G>C NP_001395393.1:p.Lys255Asn missense NM_001408465.1:c.765G>C NP_001395394.1:p.Lys255Asn missense NM_001408466.1:c.765G>C NP_001395395.1:p.Lys255Asn missense NM_001408467.1:c.765G>C NP_001395396.1:p.Lys255Asn missense NM_001408468.1:c.765G>C NP_001395397.1:p.Lys255Asn missense NM_001408469.1:c.765G>C NP_001395398.1:p.Lys255Asn missense NM_001408470.1:c.762G>C NP_001395399.1:p.Lys254Asn missense NM_001408472.1:c.906G>C NP_001395401.1:p.Lys302Asn missense NM_001408473.1:c.906G>C NP_001395402.1:p.Lys302Asn missense NM_001408474.1:c.708G>C NP_001395403.1:p.Lys236Asn missense NM_001408475.1:c.705G>C NP_001395404.1:p.Lys235Asn missense NM_001408476.1:c.708G>C NP_001395405.1:p.Lys236Asn missense NM_001408478.1:c.699G>C NP_001395407.1:p.Lys233Asn missense NM_001408479.1:c.699G>C NP_001395408.1:p.Lys233Asn missense NM_001408480.1:c.699G>C NP_001395409.1:p.Lys233Asn missense NM_001408481.1:c.699G>C NP_001395410.1:p.Lys233Asn missense NM_001408482.1:c.699G>C NP_001395411.1:p.Lys233Asn missense NM_001408483.1:c.699G>C NP_001395412.1:p.Lys233Asn missense NM_001408484.1:c.699G>C NP_001395413.1:p.Lys233Asn missense NM_001408485.1:c.699G>C NP_001395414.1:p.Lys233Asn missense NM_001408489.1:c.696G>C NP_001395418.1:p.Lys232Asn missense NM_001408490.1:c.696G>C NP_001395419.1:p.Lys232Asn missense NM_001408491.1:c.696G>C NP_001395420.1:p.Lys232Asn missense NM_001408492.1:c.696G>C NP_001395421.1:p.Lys232Asn missense NM_001408493.1:c.696G>C NP_001395422.1:p.Lys232Asn missense NM_001408494.1:c.669G>C NP_001395423.1:p.Lys223Asn missense NM_001408495.1:c.666G>C NP_001395424.1:p.Lys222Asn missense NM_001408496.1:c.645G>C NP_001395425.1:p.Lys215Asn missense NM_001408497.1:c.645G>C NP_001395426.1:p.Lys215Asn missense NM_001408498.1:c.645G>C NP_001395427.1:p.Lys215Asn missense NM_001408499.1:c.645G>C NP_001395428.1:p.Lys215Asn missense NM_001408500.1:c.645G>C NP_001395429.1:p.Lys215Asn missense NM_001408501.1:c.645G>C NP_001395430.1:p.Lys215Asn missense NM_001408502.1:c.576G>C NP_001395431.1:p.Lys192Asn missense NM_001408503.1:c.642G>C NP_001395432.1:p.Lys214Asn missense NM_001408504.1:c.642G>C NP_001395433.1:p.Lys214Asn missense NM_001408505.1:c.642G>C NP_001395434.1:p.Lys214Asn missense NM_001408506.1:c.582G>C NP_001395435.1:p.Lys194Asn missense NM_001408507.1:c.579G>C NP_001395436.1:p.Lys193Asn missense NM_001408508.1:c.570G>C NP_001395437.1:p.Lys190Asn missense NM_001408509.1:c.570G>C NP_001395438.1:p.Lys190Asn missense NM_001408510.1:c.528G>C NP_001395439.1:p.Lys176Asn missense NM_001408511.1:c.525G>C NP_001395440.1:p.Lys175Asn missense NM_001408512.1:c.405G>C NP_001395441.1:p.Lys135Asn missense NM_001408513.1:c.696G>C NP_001395442.1:p.Lys232Asn missense NM_001408514.1:c.699G>C NP_001395443.1:p.Lys233Asn missense NM_007297.4:c.4077G>C NP_009228.2:p.Lys1359Asn missense NM_007298.4:c.909G>C NP_009229.2:p.Lys303Asn missense NM_007299.4:c.909G>C NP_009230.2:p.Lys303Asn missense NM_007300.4:c.4218G>C NP_009231.2:p.Lys1406Asn missense NM_007304.2:c.909G>C NP_009235.2:p.Lys303Asn missense NR_027676.2:n.4395G>C NC_000017.11:g.43082543C>G NC_000017.10:g.41234560C>G NG_005905.2:g.135441G>C LRG_292:g.135441G>C LRG_292t1:c.4218G>C LRG_292p1:p.Lys1406Asn - Protein change
- K1237N, K1278N, K1317N, K1358N, K135N, K1363N, K1365N, K1404N, K1405N, K194N, K222N, K233N, K236N, K256N, K258N, K263N, K277N, K1110N, K1294N, K1295N, K1316N, K1318N, K1335N, K1336N, K1339N, K1357N, K1379N, K1380N, K1406N, K175N, K190N, K192N, K215N, K223N, K255N, K261N, K300N, K538N, K1293N, K1334N, K1338N, K1359N, K1378N, K1402N, K176N, K193N, K214N, K301N, K537N, K1279N, K1364N, K232N, K235N, K254N, K262N, K264N, K276N, K302N, K303N
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082542:C:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Mar 7, 2023 | RCV003530888.2 |
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
(Mar 07, 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: SCV004354612.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 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 missense change has been observed in individual(s) with ovarian cancer (PMID: 10196379). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1406 of the BRCA1 protein (p.Lys1406Asn). (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 missense change has been observed in individual(s) with ovarian cancer (PMID: 10196379). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1406 of the BRCA1 protein (p.Lys1406Asn).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Germline BRCA1 alterations in a population-based series of ovarian cancer cases. | Janezic SA | Human molecular genetics | 1999 | PMID: 10196379 |
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.