The c.4365_4369delAACTT pathogenic mutation, located in coding exon 12 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 4365 to 4369, causing a translational frameshift with a predicted alternate stop codon (p.L1455Ffs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4365_4369del (p.Leu1455fs)
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.
Pathogenic
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.4365_4369del (p.Leu1455fs)
Variation ID: 1740044 Accession: VCV001740044.2
- Type and length
-
Deletion, 5 bp
- Location
-
Cytogenetic: 17q21.31 17: 43076603-43076607 (GRCh38) [ NCBI UCSC ] 17: 41228620-41228624 (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 Nov 29, 2022 May 1, 2024 Jun 10, 2022 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4365_4369del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1455fs frameshift NM_001407571.1:c.4150_4154delTTAAC NP_001394500.1:p.Leu1384Phefs frameshift NM_001407581.1:c.4429_4433delTTAAC NP_001394510.1:p.Leu1477Phefs frameshift NM_001407582.1:c.4429_4433delTTAAC NP_001394511.1:p.Leu1477Phefs frameshift NM_001407583.1:c.4426_4430delTTAAC NP_001394512.1:p.Leu1476Phefs frameshift NM_001407585.1:c.4426_4430delTTAAC NP_001394514.1:p.Leu1476Phefs frameshift NM_001407587.1:c.4426_4430delTTAAC NP_001394516.1:p.Leu1476Phefs frameshift NM_001407590.1:c.4423_4427delTTAAC NP_001394519.1:p.Leu1475Phefs frameshift NM_001407591.1:c.4423_4427delTTAAC NP_001394520.1:p.Leu1475Phefs frameshift NM_001407593.1:c.4363_4367delTTAAC NP_001394522.1:p.Leu1455Phefs frameshift NM_001407594.1:c.4363_4367delTTAAC NP_001394523.1:p.Leu1455Phefs frameshift NM_001407596.1:c.4363_4367delTTAAC NP_001394525.1:p.Leu1455Phefs frameshift NM_001407597.1:c.4363_4367delTTAAC NP_001394526.1:p.Leu1455Phefs frameshift NM_001407598.1:c.4363_4367delTTAAC NP_001394527.1:p.Leu1455Phefs frameshift NM_001407602.1:c.4363_4367delTTAAC NP_001394531.1:p.Leu1455Phefs frameshift NM_001407603.1:c.4363_4367delTTAAC NP_001394532.1:p.Leu1455Phefs frameshift NM_001407605.1:c.4363_4367delTTAAC NP_001394534.1:p.Leu1455Phefs frameshift NM_001407610.1:c.4360_4364delTTAAC NP_001394539.1:p.Leu1454Phefs frameshift NM_001407611.1:c.4360_4364delTTAAC NP_001394540.1:p.Leu1454Phefs frameshift NM_001407612.1:c.4360_4364delTTAAC NP_001394541.1:p.Leu1454Phefs frameshift NM_001407613.1:c.4360_4364delTTAAC NP_001394542.1:p.Leu1454Phefs frameshift NM_001407614.1:c.4360_4364delTTAAC NP_001394543.1:p.Leu1454Phefs frameshift NM_001407615.1:c.4360_4364delTTAAC NP_001394544.1:p.Leu1454Phefs frameshift NM_001407616.1:c.4360_4364delTTAAC NP_001394545.1:p.Leu1454Phefs frameshift NM_001407617.1:c.4360_4364delTTAAC NP_001394546.1:p.Leu1454Phefs frameshift NM_001407618.1:c.4360_4364delTTAAC NP_001394547.1:p.Leu1454Phefs frameshift NM_001407619.1:c.4360_4364delTTAAC NP_001394548.1:p.Leu1454Phefs frameshift NM_001407620.1:c.4360_4364delTTAAC NP_001394549.1:p.Leu1454Phefs frameshift NM_001407621.1:c.4360_4364delTTAAC NP_001394550.1:p.Leu1454Phefs frameshift NM_001407622.1:c.4360_4364delTTAAC NP_001394551.1:p.Leu1454Phefs frameshift NM_001407623.1:c.4360_4364delTTAAC NP_001394552.1:p.Leu1454Phefs frameshift NM_001407624.1:c.4360_4364delTTAAC NP_001394553.1:p.Leu1454Phefs frameshift NM_001407625.1:c.4360_4364delTTAAC NP_001394554.1:p.Leu1454Phefs frameshift NM_001407626.1:c.4360_4364delTTAAC NP_001394555.1:p.Leu1454Phefs frameshift NM_001407627.1:c.4357_4361delTTAAC NP_001394556.1:p.Leu1453Phefs frameshift NM_001407628.1:c.4357_4361delTTAAC NP_001394557.1:p.Leu1453Phefs frameshift NM_001407629.1:c.4357_4361delTTAAC NP_001394558.1:p.Leu1453Phefs frameshift NM_001407630.1:c.4357_4361delTTAAC NP_001394559.1:p.Leu1453Phefs frameshift NM_001407631.1:c.4357_4361delTTAAC NP_001394560.1:p.Leu1453Phefs frameshift NM_001407632.1:c.4357_4361delTTAAC NP_001394561.1:p.Leu1453Phefs frameshift NM_001407633.1:c.4357_4361delTTAAC NP_001394562.1:p.Leu1453Phefs frameshift NM_001407634.1:c.4357_4361delTTAAC NP_001394563.1:p.Leu1453Phefs frameshift NM_001407635.1:c.4357_4361delTTAAC NP_001394564.1:p.Leu1453Phefs frameshift NM_001407636.1:c.4357_4361delTTAAC NP_001394565.1:p.Leu1453Phefs frameshift NM_001407637.1:c.4357_4361delTTAAC NP_001394566.1:p.Leu1453Phefs frameshift NM_001407638.1:c.4357_4361delTTAAC NP_001394567.1:p.Leu1453Phefs frameshift NM_001407639.1:c.4357_4361delTTAAC NP_001394568.1:p.Leu1453Phefs frameshift NM_001407640.1:c.4357_4361delTTAAC NP_001394569.1:p.Leu1453Phefs frameshift NM_001407641.1:c.4357_4361delTTAAC NP_001394570.1:p.Leu1453Phefs frameshift NM_001407642.1:c.4357_4361delTTAAC NP_001394571.1:p.Leu1453Phefs frameshift NM_001407644.1:c.4354_4358delTTAAC NP_001394573.1:p.Leu1452Phefs frameshift NM_001407645.1:c.4354_4358delTTAAC NP_001394574.1:p.Leu1452Phefs frameshift NM_001407646.1:c.4351_4355delTTAAC NP_001394575.1:p.Leu1451Phefs frameshift NM_001407647.1:c.4348_4352delTTAAC NP_001394576.1:p.Leu1450Phefs frameshift NM_001407648.1:c.4306_4310delTTAAC NP_001394577.1:p.Leu1436Phefs frameshift NM_001407649.1:c.4303_4307delTTAAC NP_001394578.1:p.Leu1435Phefs frameshift NM_001407652.1:c.4363_4367delTTAAC NP_001394581.1:p.Leu1455Phefs frameshift NM_001407653.1:c.4285_4289delTTAAC NP_001394582.1:p.Leu1429Phefs frameshift NM_001407654.1:c.4285_4289delTTAAC NP_001394583.1:p.Leu1429Phefs frameshift NM_001407655.1:c.4285_4289delTTAAC NP_001394584.1:p.Leu1429Phefs frameshift NM_001407656.1:c.4282_4286delTTAAC NP_001394585.1:p.Leu1428Phefs frameshift NM_001407657.1:c.4282_4286delTTAAC NP_001394586.1:p.Leu1428Phefs frameshift NM_001407658.1:c.4282_4286delTTAAC NP_001394587.1:p.Leu1428Phefs frameshift NM_001407659.1:c.4279_4283delTTAAC NP_001394588.1:p.Leu1427Phefs frameshift NM_001407660.1:c.4279_4283delTTAAC NP_001394589.1:p.Leu1427Phefs frameshift NM_001407661.1:c.4279_4283delTTAAC NP_001394590.1:p.Leu1427Phefs frameshift NM_001407662.1:c.4279_4283delTTAAC NP_001394591.1:p.Leu1427Phefs frameshift NM_001407663.1:c.4279_4283delTTAAC NP_001394592.1:p.Leu1427Phefs frameshift NM_001407664.1:c.4240_4244delTTAAC NP_001394593.1:p.Leu1414Phefs frameshift NM_001407665.1:c.4240_4244delTTAAC NP_001394594.1:p.Leu1414Phefs frameshift NM_001407666.1:c.4240_4244delTTAAC NP_001394595.1:p.Leu1414Phefs frameshift NM_001407667.1:c.4240_4244delTTAAC NP_001394596.1:p.Leu1414Phefs frameshift NM_001407668.1:c.4240_4244delTTAAC NP_001394597.1:p.Leu1414Phefs frameshift NM_001407669.1:c.4240_4244delTTAAC NP_001394598.1:p.Leu1414Phefs frameshift NM_001407670.1:c.4237_4241delTTAAC NP_001394599.1:p.Leu1413Phefs frameshift NM_001407671.1:c.4237_4241delTTAAC NP_001394600.1:p.Leu1413Phefs frameshift NM_001407672.1:c.4237_4241delTTAAC NP_001394601.1:p.Leu1413Phefs frameshift NM_001407673.1:c.4237_4241delTTAAC NP_001394602.1:p.Leu1413Phefs frameshift NM_001407674.1:c.4237_4241delTTAAC NP_001394603.1:p.Leu1413Phefs frameshift NM_001407675.1:c.4237_4241delTTAAC NP_001394604.1:p.Leu1413Phefs frameshift NM_001407676.1:c.4237_4241delTTAAC NP_001394605.1:p.Leu1413Phefs frameshift NM_001407677.1:c.4237_4241delTTAAC NP_001394606.1:p.Leu1413Phefs frameshift NM_001407678.1:c.4237_4241delTTAAC NP_001394607.1:p.Leu1413Phefs frameshift NM_001407679.1:c.4237_4241delTTAAC NP_001394608.1:p.Leu1413Phefs frameshift NM_001407680.1:c.4237_4241delTTAAC NP_001394609.1:p.Leu1413Phefs frameshift NM_001407681.1:c.4234_4238delTTAAC NP_001394610.1:p.Leu1412Phefs frameshift NM_001407682.1:c.4234_4238delTTAAC NP_001394611.1:p.Leu1412Phefs frameshift NM_001407683.1:c.4234_4238delTTAAC NP_001394612.1:p.Leu1412Phefs frameshift NM_001407684.1:c.4363_4367delTTAAC NP_001394613.1:p.Leu1455Phefs frameshift NM_001407685.1:c.4234_4238delTTAAC NP_001394614.1:p.Leu1412Phefs frameshift NM_001407686.1:c.4234_4238delTTAAC NP_001394615.1:p.Leu1412Phefs frameshift NM_001407687.1:c.4234_4238delTTAAC NP_001394616.1:p.Leu1412Phefs frameshift NM_001407688.1:c.4234_4238delTTAAC NP_001394617.1:p.Leu1412Phefs frameshift NM_001407689.1:c.4234_4238delTTAAC NP_001394618.1:p.Leu1412Phefs frameshift NM_001407690.1:c.4231_4235delTTAAC NP_001394619.1:p.Leu1411Phefs frameshift NM_001407691.1:c.4231_4235delTTAAC NP_001394620.1:p.Leu1411Phefs frameshift NM_001407692.1:c.4222_4226delTTAAC NP_001394621.1:p.Leu1408Phefs frameshift NM_001407694.1:c.4222_4226delTTAAC NP_001394623.1:p.Leu1408Phefs frameshift NM_001407695.1:c.4222_4226delTTAAC NP_001394624.1:p.Leu1408Phefs frameshift NM_001407696.1:c.4222_4226delTTAAC NP_001394625.1:p.Leu1408Phefs frameshift NM_001407697.1:c.4222_4226delTTAAC NP_001394626.1:p.Leu1408Phefs frameshift NM_001407698.1:c.4222_4226delTTAAC NP_001394627.1:p.Leu1408Phefs frameshift NM_001407724.1:c.4222_4226delTTAAC NP_001394653.1:p.Leu1408Phefs frameshift NM_001407725.1:c.4222_4226delTTAAC NP_001394654.1:p.Leu1408Phefs frameshift NM_001407726.1:c.4222_4226delTTAAC NP_001394655.1:p.Leu1408Phefs frameshift NM_001407727.1:c.4222_4226delTTAAC NP_001394656.1:p.Leu1408Phefs frameshift NM_001407728.1:c.4222_4226delTTAAC NP_001394657.1:p.Leu1408Phefs frameshift NM_001407729.1:c.4222_4226delTTAAC NP_001394658.1:p.Leu1408Phefs frameshift NM_001407730.1:c.4222_4226delTTAAC NP_001394659.1:p.Leu1408Phefs frameshift NM_001407731.1:c.4222_4226delTTAAC NP_001394660.1:p.Leu1408Phefs frameshift NM_001407732.1:c.4219_4223delTTAAC NP_001394661.1:p.Leu1407Phefs frameshift NM_001407733.1:c.4219_4223delTTAAC NP_001394662.1:p.Leu1407Phefs frameshift NM_001407734.1:c.4219_4223delTTAAC NP_001394663.1:p.Leu1407Phefs frameshift NM_001407735.1:c.4219_4223delTTAAC NP_001394664.1:p.Leu1407Phefs frameshift NM_001407736.1:c.4219_4223delTTAAC NP_001394665.1:p.Leu1407Phefs frameshift NM_001407737.1:c.4219_4223delTTAAC NP_001394666.1:p.Leu1407Phefs frameshift NM_001407738.1:c.4219_4223delTTAAC NP_001394667.1:p.Leu1407Phefs frameshift NM_001407739.1:c.4219_4223delTTAAC NP_001394668.1:p.Leu1407Phefs frameshift NM_001407740.1:c.4219_4223delTTAAC NP_001394669.1:p.Leu1407Phefs frameshift NM_001407741.1:c.4219_4223delTTAAC NP_001394670.1:p.Leu1407Phefs frameshift NM_001407742.1:c.4219_4223delTTAAC NP_001394671.1:p.Leu1407Phefs frameshift NM_001407743.1:c.4219_4223delTTAAC NP_001394672.1:p.Leu1407Phefs frameshift NM_001407744.1:c.4219_4223delTTAAC NP_001394673.1:p.Leu1407Phefs frameshift NM_001407745.1:c.4219_4223delTTAAC NP_001394674.1:p.Leu1407Phefs frameshift NM_001407746.1:c.4219_4223delTTAAC NP_001394675.1:p.Leu1407Phefs frameshift NM_001407747.1:c.4219_4223delTTAAC NP_001394676.1:p.Leu1407Phefs frameshift NM_001407748.1:c.4219_4223delTTAAC NP_001394677.1:p.Leu1407Phefs frameshift NM_001407749.1:c.4219_4223delTTAAC NP_001394678.1:p.Leu1407Phefs frameshift NM_001407750.1:c.4219_4223delTTAAC NP_001394679.1:p.Leu1407Phefs frameshift NM_001407751.1:c.4219_4223delTTAAC NP_001394680.1:p.Leu1407Phefs frameshift NM_001407752.1:c.4219_4223delTTAAC NP_001394681.1:p.Leu1407Phefs frameshift NM_001407838.1:c.4216_4220delTTAAC NP_001394767.1:p.Leu1406Phefs frameshift NM_001407839.1:c.4216_4220delTTAAC NP_001394768.1:p.Leu1406Phefs frameshift NM_001407841.1:c.4216_4220delTTAAC NP_001394770.1:p.Leu1406Phefs frameshift NM_001407842.1:c.4216_4220delTTAAC NP_001394771.1:p.Leu1406Phefs frameshift NM_001407843.1:c.4216_4220delTTAAC NP_001394772.1:p.Leu1406Phefs frameshift NM_001407844.1:c.4216_4220delTTAAC NP_001394773.1:p.Leu1406Phefs frameshift NM_001407845.1:c.4216_4220delTTAAC NP_001394774.1:p.Leu1406Phefs frameshift NM_001407846.1:c.4216_4220delTTAAC NP_001394775.1:p.Leu1406Phefs frameshift NM_001407847.1:c.4216_4220delTTAAC NP_001394776.1:p.Leu1406Phefs frameshift NM_001407848.1:c.4216_4220delTTAAC NP_001394777.1:p.Leu1406Phefs frameshift NM_001407849.1:c.4216_4220delTTAAC NP_001394778.1:p.Leu1406Phefs frameshift NM_001407850.1:c.4216_4220delTTAAC NP_001394779.1:p.Leu1406Phefs frameshift NM_001407851.1:c.4216_4220delTTAAC NP_001394780.1:p.Leu1406Phefs frameshift NM_001407852.1:c.4216_4220delTTAAC NP_001394781.1:p.Leu1406Phefs frameshift NM_001407853.1:c.4216_4220delTTAAC NP_001394782.1:p.Leu1406Phefs frameshift NM_001407854.1:c.4363_4367delTTAAC NP_001394783.1:p.Leu1455Phefs frameshift NM_001407858.1:c.4360_4364delTTAAC NP_001394787.1:p.Leu1454Phefs frameshift NM_001407859.1:c.4360_4364delTTAAC NP_001394788.1:p.Leu1454Phefs frameshift NM_001407860.1:c.4360_4364delTTAAC NP_001394789.1:p.Leu1454Phefs frameshift NM_001407861.1:c.4357_4361delTTAAC NP_001394790.1:p.Leu1453Phefs frameshift NM_001407862.1:c.4162_4166delTTAAC NP_001394791.1:p.Leu1388Phefs frameshift NM_001407863.1:c.4237_4241delTTAAC NP_001394792.1:p.Leu1413Phefs frameshift NM_001407874.1:c.4156_4160delTTAAC NP_001394803.1:p.Leu1386Phefs frameshift NM_001407875.1:c.4156_4160delTTAAC NP_001394804.1:p.Leu1386Phefs frameshift NM_001407879.1:c.4153_4157delTTAAC NP_001394808.1:p.Leu1385Phefs frameshift NM_001407881.1:c.4153_4157delTTAAC NP_001394810.1:p.Leu1385Phefs frameshift NM_001407882.1:c.4153_4157delTTAAC NP_001394811.1:p.Leu1385Phefs frameshift NM_001407884.1:c.4153_4157delTTAAC NP_001394813.1:p.Leu1385Phefs frameshift NM_001407885.1:c.4153_4157delTTAAC NP_001394814.1:p.Leu1385Phefs frameshift NM_001407886.1:c.4153_4157delTTAAC NP_001394815.1:p.Leu1385Phefs frameshift NM_001407887.1:c.4153_4157delTTAAC NP_001394816.1:p.Leu1385Phefs frameshift NM_001407889.1:c.4153_4157delTTAAC NP_001394818.1:p.Leu1385Phefs frameshift NM_001407894.1:c.4150_4154delTTAAC NP_001394823.1:p.Leu1384Phefs frameshift NM_001407895.1:c.4150_4154delTTAAC NP_001394824.1:p.Leu1384Phefs frameshift NM_001407896.1:c.4150_4154delTTAAC NP_001394825.1:p.Leu1384Phefs frameshift NM_001407897.1:c.4150_4154delTTAAC NP_001394826.1:p.Leu1384Phefs frameshift NM_001407898.1:c.4150_4154delTTAAC NP_001394827.1:p.Leu1384Phefs frameshift NM_001407899.1:c.4150_4154delTTAAC NP_001394828.1:p.Leu1384Phefs frameshift NM_001407900.1:c.4150_4154delTTAAC NP_001394829.1:p.Leu1384Phefs frameshift NM_001407902.1:c.4150_4154delTTAAC NP_001394831.1:p.Leu1384Phefs frameshift NM_001407904.1:c.4150_4154delTTAAC NP_001394833.1:p.Leu1384Phefs frameshift NM_001407906.1:c.4150_4154delTTAAC NP_001394835.1:p.Leu1384Phefs frameshift NM_001407907.1:c.4150_4154delTTAAC NP_001394836.1:p.Leu1384Phefs frameshift NM_001407908.1:c.4150_4154delTTAAC NP_001394837.1:p.Leu1384Phefs frameshift NM_001407909.1:c.4150_4154delTTAAC NP_001394838.1:p.Leu1384Phefs frameshift NM_001407910.1:c.4150_4154delTTAAC NP_001394839.1:p.Leu1384Phefs frameshift NM_001407915.1:c.4147_4151delTTAAC NP_001394844.1:p.Leu1383Phefs frameshift NM_001407916.1:c.4147_4151delTTAAC NP_001394845.1:p.Leu1383Phefs frameshift NM_001407917.1:c.4147_4151delTTAAC NP_001394846.1:p.Leu1383Phefs frameshift NM_001407918.1:c.4147_4151delTTAAC NP_001394847.1:p.Leu1383Phefs frameshift NM_001407919.1:c.4240_4244delTTAAC NP_001394848.1:p.Leu1414Phefs frameshift NM_001407920.1:c.4099_4103delTTAAC NP_001394849.1:p.Leu1367Phefs frameshift NM_001407921.1:c.4099_4103delTTAAC NP_001394850.1:p.Leu1367Phefs frameshift NM_001407922.1:c.4099_4103delTTAAC NP_001394851.1:p.Leu1367Phefs frameshift NM_001407923.1:c.4099_4103delTTAAC NP_001394852.1:p.Leu1367Phefs frameshift NM_001407924.1:c.4099_4103delTTAAC NP_001394853.1:p.Leu1367Phefs frameshift NM_001407925.1:c.4099_4103delTTAAC NP_001394854.1:p.Leu1367Phefs frameshift NM_001407926.1:c.4099_4103delTTAAC NP_001394855.1:p.Leu1367Phefs frameshift NM_001407927.1:c.4096_4100delTTAAC NP_001394856.1:p.Leu1366Phefs frameshift NM_001407928.1:c.4096_4100delTTAAC NP_001394857.1:p.Leu1366Phefs frameshift NM_001407929.1:c.4096_4100delTTAAC NP_001394858.1:p.Leu1366Phefs frameshift NM_001407930.1:c.4096_4100delTTAAC NP_001394859.1:p.Leu1366Phefs frameshift NM_001407931.1:c.4096_4100delTTAAC NP_001394860.1:p.Leu1366Phefs frameshift NM_001407932.1:c.4096_4100delTTAAC NP_001394861.1:p.Leu1366Phefs frameshift NM_001407933.1:c.4096_4100delTTAAC NP_001394862.1:p.Leu1366Phefs frameshift NM_001407934.1:c.4093_4097delTTAAC NP_001394863.1:p.Leu1365Phefs frameshift NM_001407935.1:c.4093_4097delTTAAC NP_001394864.1:p.Leu1365Phefs frameshift NM_001407936.1:c.4093_4097delTTAAC NP_001394865.1:p.Leu1365Phefs frameshift NM_001407937.1:c.4240_4244delTTAAC NP_001394866.1:p.Leu1414Phefs frameshift NM_001407938.1:c.4240_4244delTTAAC NP_001394867.1:p.Leu1414Phefs frameshift NM_001407939.1:c.4237_4241delTTAAC NP_001394868.1:p.Leu1413Phefs frameshift NM_001407940.1:c.4237_4241delTTAAC NP_001394869.1:p.Leu1413Phefs frameshift NM_001407941.1:c.4234_4238delTTAAC NP_001394870.1:p.Leu1412Phefs frameshift NM_001407942.1:c.4222_4226delTTAAC NP_001394871.1:p.Leu1408Phefs frameshift NM_001407943.1:c.4219_4223delTTAAC NP_001394872.1:p.Leu1407Phefs frameshift NM_001407944.1:c.4219_4223delTTAAC NP_001394873.1:p.Leu1407Phefs frameshift NM_001407945.1:c.4219_4223delTTAAC NP_001394874.1:p.Leu1407Phefs frameshift NM_001407946.1:c.4030_4034delTTAAC NP_001394875.1:p.Leu1344Phefs frameshift NM_001407947.1:c.4030_4034delTTAAC NP_001394876.1:p.Leu1344Phefs frameshift NM_001407948.1:c.4030_4034delTTAAC NP_001394877.1:p.Leu1344Phefs frameshift NM_001407949.1:c.4030_4034delTTAAC NP_001394878.1:p.Leu1344Phefs frameshift NM_001407950.1:c.4027_4031delTTAAC NP_001394879.1:p.Leu1343Phefs frameshift NM_001407951.1:c.4027_4031delTTAAC NP_001394880.1:p.Leu1343Phefs frameshift NM_001407952.1:c.4027_4031delTTAAC NP_001394881.1:p.Leu1343Phefs frameshift NM_001407953.1:c.4027_4031delTTAAC NP_001394882.1:p.Leu1343Phefs frameshift NM_001407954.1:c.4027_4031delTTAAC NP_001394883.1:p.Leu1343Phefs frameshift NM_001407955.1:c.4027_4031delTTAAC NP_001394884.1:p.Leu1343Phefs frameshift NM_001407956.1:c.4024_4028delTTAAC NP_001394885.1:p.Leu1342Phefs frameshift NM_001407957.1:c.4024_4028delTTAAC NP_001394886.1:p.Leu1342Phefs frameshift NM_001407958.1:c.4024_4028delTTAAC NP_001394887.1:p.Leu1342Phefs frameshift NM_001407959.1:c.3982_3986delTTAAC NP_001394888.1:p.Leu1328Phefs frameshift NM_001407960.1:c.3979_3983delTTAAC NP_001394889.1:p.Leu1327Phefs frameshift NM_001407962.1:c.3979_3983delTTAAC NP_001394891.1:p.Leu1327Phefs frameshift NM_001407963.1:c.3976_3980delTTAAC NP_001394892.1:p.Leu1326Phefs frameshift NM_001407965.1:c.3856_3860delTTAAC NP_001394894.1:p.Leu1286Phefs frameshift NM_001407966.1:c.3475_3479delTTAAC NP_001394895.1:p.Leu1159Phefs frameshift NM_001407967.1:c.3472_3476delTTAAC NP_001394896.1:p.Leu1158Phefs frameshift NM_001407968.1:c.1759_1763delTTAAC NP_001394897.1:p.Leu587Phefs frameshift NM_001407969.1:c.1756_1760delTTAAC NP_001394898.1:p.Leu586Phefs frameshift NM_001407970.1:c.1120_1124delTTAAC NP_001394899.1:p.Leu374Phefs frameshift NM_001407971.1:c.1120_1124delTTAAC NP_001394900.1:p.Leu374Phefs frameshift NM_001407972.1:c.1117_1121delTTAAC NP_001394901.1:p.Leu373Phefs frameshift NM_001407973.1:c.1054_1058delTTAAC NP_001394902.1:p.Leu352Phefs frameshift NM_001407974.1:c.1054_1058delTTAAC NP_001394903.1:p.Leu352Phefs frameshift NM_001407975.1:c.1054_1058delTTAAC NP_001394904.1:p.Leu352Phefs frameshift NM_001407976.1:c.1054_1058delTTAAC NP_001394905.1:p.Leu352Phefs frameshift NM_001407977.1:c.1054_1058delTTAAC NP_001394906.1:p.Leu352Phefs frameshift NM_001407978.1:c.1054_1058delTTAAC NP_001394907.1:p.Leu352Phefs frameshift NM_001407979.1:c.1051_1055delTTAAC NP_001394908.1:p.Leu351Phefs frameshift NM_001407980.1:c.1051_1055delTTAAC NP_001394909.1:p.Leu351Phefs frameshift NM_001407981.1:c.1051_1055delTTAAC NP_001394910.1:p.Leu351Phefs frameshift NM_001407982.1:c.1051_1055delTTAAC NP_001394911.1:p.Leu351Phefs frameshift NM_001407983.1:c.1051_1055delTTAAC NP_001394912.1:p.Leu351Phefs frameshift NM_001407984.1:c.1051_1055delTTAAC NP_001394913.1:p.Leu351Phefs frameshift NM_001407985.1:c.1051_1055delTTAAC NP_001394914.1:p.Leu351Phefs frameshift NM_001407986.1:c.1051_1055delTTAAC NP_001394915.1:p.Leu351Phefs frameshift NM_001407990.1:c.1051_1055delTTAAC NP_001394919.1:p.Leu351Phefs frameshift NM_001407991.1:c.1051_1055delTTAAC NP_001394920.1:p.Leu351Phefs frameshift NM_001407992.1:c.1051_1055delTTAAC NP_001394921.1:p.Leu351Phefs frameshift NM_001407993.1:c.1051_1055delTTAAC NP_001394922.1:p.Leu351Phefs frameshift NM_001408392.1:c.1048_1052delTTAAC NP_001395321.1:p.Leu350Phefs frameshift NM_001408396.1:c.1048_1052delTTAAC NP_001395325.1:p.Leu350Phefs frameshift NM_001408397.1:c.1048_1052delTTAAC NP_001395326.1:p.Leu350Phefs frameshift NM_001408398.1:c.1048_1052delTTAAC NP_001395327.1:p.Leu350Phefs frameshift NM_001408399.1:c.1048_1052delTTAAC NP_001395328.1:p.Leu350Phefs frameshift NM_001408400.1:c.1048_1052delTTAAC NP_001395329.1:p.Leu350Phefs frameshift NM_001408401.1:c.1048_1052delTTAAC NP_001395330.1:p.Leu350Phefs frameshift NM_001408402.1:c.1048_1052delTTAAC NP_001395331.1:p.Leu350Phefs frameshift NM_001408403.1:c.1048_1052delTTAAC NP_001395332.1:p.Leu350Phefs frameshift NM_001408404.1:c.1048_1052delTTAAC NP_001395333.1:p.Leu350Phefs frameshift NM_001408406.1:c.1045_1049delTTAAC NP_001395335.1:p.Leu349Phefs frameshift NM_001408407.1:c.1045_1049delTTAAC NP_001395336.1:p.Leu349Phefs frameshift NM_001408408.1:c.1045_1049delTTAAC NP_001395337.1:p.Leu349Phefs frameshift NM_001408409.1:c.1042_1046delTTAAC NP_001395338.1:p.Leu348Phefs frameshift NM_001408410.1:c.979_983delTTAAC NP_001395339.1:p.Leu327Phefs frameshift NM_001408411.1:c.976_980delTTAAC NP_001395340.1:p.Leu326Phefs frameshift NM_001408412.1:c.973_977delTTAAC NP_001395341.1:p.Leu325Phefs frameshift NM_001408413.1:c.973_977delTTAAC NP_001395342.1:p.Leu325Phefs frameshift NM_001408414.1:c.973_977delTTAAC NP_001395343.1:p.Leu325Phefs frameshift NM_001408415.1:c.973_977delTTAAC NP_001395344.1:p.Leu325Phefs frameshift NM_001408416.1:c.973_977delTTAAC NP_001395345.1:p.Leu325Phefs frameshift NM_001408418.1:c.937_941delTTAAC NP_001395347.1:p.Leu313Phefs frameshift NM_001408419.1:c.937_941delTTAAC NP_001395348.1:p.Leu313Phefs frameshift NM_001408420.1:c.937_941delTTAAC NP_001395349.1:p.Leu313Phefs frameshift NM_001408421.1:c.934_938delTTAAC NP_001395350.1:p.Leu312Phefs frameshift NM_001408422.1:c.934_938delTTAAC NP_001395351.1:p.Leu312Phefs frameshift NM_001408423.1:c.934_938delTTAAC NP_001395352.1:p.Leu312Phefs frameshift NM_001408424.1:c.934_938delTTAAC NP_001395353.1:p.Leu312Phefs frameshift NM_001408425.1:c.931_935delTTAAC NP_001395354.1:p.Leu311Phefs frameshift NM_001408426.1:c.931_935delTTAAC NP_001395355.1:p.Leu311Phefs frameshift NM_001408427.1:c.931_935delTTAAC NP_001395356.1:p.Leu311Phefs frameshift NM_001408428.1:c.931_935delTTAAC NP_001395357.1:p.Leu311Phefs frameshift NM_001408429.1:c.931_935delTTAAC NP_001395358.1:p.Leu311Phefs frameshift NM_001408430.1:c.931_935delTTAAC NP_001395359.1:p.Leu311Phefs frameshift NM_001408431.1:c.931_935delTTAAC NP_001395360.1:p.Leu311Phefs frameshift NM_001408432.1:c.928_932delTTAAC NP_001395361.1:p.Leu310Phefs frameshift NM_001408433.1:c.928_932delTTAAC NP_001395362.1:p.Leu310Phefs frameshift NM_001408434.1:c.928_932delTTAAC NP_001395363.1:p.Leu310Phefs frameshift NM_001408435.1:c.928_932delTTAAC NP_001395364.1:p.Leu310Phefs frameshift NM_001408436.1:c.928_932delTTAAC NP_001395365.1:p.Leu310Phefs frameshift NM_001408437.1:c.928_932delTTAAC NP_001395366.1:p.Leu310Phefs frameshift NM_001408438.1:c.928_932delTTAAC NP_001395367.1:p.Leu310Phefs frameshift NM_001408439.1:c.928_932delTTAAC NP_001395368.1:p.Leu310Phefs frameshift NM_001408440.1:c.928_932delTTAAC NP_001395369.1:p.Leu310Phefs frameshift NM_001408441.1:c.928_932delTTAAC NP_001395370.1:p.Leu310Phefs frameshift NM_001408442.1:c.928_932delTTAAC NP_001395371.1:p.Leu310Phefs frameshift NM_001408443.1:c.928_932delTTAAC NP_001395372.1:p.Leu310Phefs frameshift NM_001408444.1:c.928_932delTTAAC NP_001395373.1:p.Leu310Phefs frameshift NM_001408445.1:c.925_929delTTAAC NP_001395374.1:p.Leu309Phefs frameshift NM_001408446.1:c.925_929delTTAAC NP_001395375.1:p.Leu309Phefs frameshift NM_001408447.1:c.925_929delTTAAC NP_001395376.1:p.Leu309Phefs frameshift NM_001408448.1:c.925_929delTTAAC NP_001395377.1:p.Leu309Phefs frameshift NM_001408450.1:c.925_929delTTAAC NP_001395379.1:p.Leu309Phefs frameshift NM_001408451.1:c.919_923delTTAAC NP_001395380.1:p.Leu307Phefs frameshift NM_001408452.1:c.913_917delTTAAC NP_001395381.1:p.Leu305Phefs frameshift NM_001408453.1:c.913_917delTTAAC NP_001395382.1:p.Leu305Phefs frameshift NM_001408454.1:c.913_917delTTAAC NP_001395383.1:p.Leu305Phefs frameshift NM_001408455.1:c.913_917delTTAAC NP_001395384.1:p.Leu305Phefs frameshift NM_001408456.1:c.913_917delTTAAC NP_001395385.1:p.Leu305Phefs frameshift NM_001408457.1:c.913_917delTTAAC NP_001395386.1:p.Leu305Phefs frameshift NM_001408458.1:c.910_914delTTAAC NP_001395387.1:p.Leu304Phefs frameshift NM_001408459.1:c.910_914delTTAAC NP_001395388.1:p.Leu304Phefs frameshift NM_001408460.1:c.910_914delTTAAC NP_001395389.1:p.Leu304Phefs frameshift NM_001408461.1:c.910_914delTTAAC NP_001395390.1:p.Leu304Phefs frameshift NM_001408462.1:c.910_914delTTAAC NP_001395391.1:p.Leu304Phefs frameshift NM_001408463.1:c.910_914delTTAAC NP_001395392.1:p.Leu304Phefs frameshift NM_001408464.1:c.910_914delTTAAC NP_001395393.1:p.Leu304Phefs frameshift NM_001408465.1:c.910_914delTTAAC NP_001395394.1:p.Leu304Phefs frameshift NM_001408466.1:c.910_914delTTAAC NP_001395395.1:p.Leu304Phefs frameshift NM_001408467.1:c.910_914delTTAAC NP_001395396.1:p.Leu304Phefs frameshift NM_001408468.1:c.907_911delTTAAC NP_001395397.1:p.Leu303Phefs frameshift NM_001408469.1:c.907_911delTTAAC NP_001395398.1:p.Leu303Phefs frameshift NM_001408470.1:c.907_911delTTAAC NP_001395399.1:p.Leu303Phefs frameshift NM_001408472.1:c.1051_1055delTTAAC NP_001395401.1:p.Leu351Phefs frameshift NM_001408473.1:c.1048_1052delTTAAC NP_001395402.1:p.Leu350Phefs frameshift NM_001408474.1:c.853_857delTTAAC NP_001395403.1:p.Leu285Phefs frameshift NM_001408475.1:c.850_854delTTAAC NP_001395404.1:p.Leu284Phefs frameshift NM_001408476.1:c.850_854delTTAAC NP_001395405.1:p.Leu284Phefs frameshift NM_001408478.1:c.844_848delTTAAC NP_001395407.1:p.Leu282Phefs frameshift NM_001408479.1:c.844_848delTTAAC NP_001395408.1:p.Leu282Phefs frameshift NM_001408480.1:c.844_848delTTAAC NP_001395409.1:p.Leu282Phefs frameshift NM_001408481.1:c.841_845delTTAAC NP_001395410.1:p.Leu281Phefs frameshift NM_001408482.1:c.841_845delTTAAC NP_001395411.1:p.Leu281Phefs frameshift NM_001408483.1:c.841_845delTTAAC NP_001395412.1:p.Leu281Phefs frameshift NM_001408484.1:c.841_845delTTAAC NP_001395413.1:p.Leu281Phefs frameshift NM_001408485.1:c.841_845delTTAAC NP_001395414.1:p.Leu281Phefs frameshift NM_001408489.1:c.841_845delTTAAC NP_001395418.1:p.Leu281Phefs frameshift NM_001408490.1:c.841_845delTTAAC NP_001395419.1:p.Leu281Phefs frameshift NM_001408491.1:c.841_845delTTAAC NP_001395420.1:p.Leu281Phefs frameshift NM_001408492.1:c.838_842delTTAAC NP_001395421.1:p.Leu280Phefs frameshift NM_001408493.1:c.838_842delTTAAC NP_001395422.1:p.Leu280Phefs frameshift NM_001408494.1:c.814_818delTTAAC NP_001395423.1:p.Leu272Phefs frameshift NM_001408495.1:c.808_812delTTAAC NP_001395424.1:p.Leu270Phefs frameshift NM_001408496.1:c.790_794delTTAAC NP_001395425.1:p.Leu264Phefs frameshift NM_001408497.1:c.790_794delTTAAC NP_001395426.1:p.Leu264Phefs frameshift NM_001408498.1:c.790_794delTTAAC NP_001395427.1:p.Leu264Phefs frameshift NM_001408499.1:c.790_794delTTAAC NP_001395428.1:p.Leu264Phefs frameshift NM_001408500.1:c.790_794delTTAAC NP_001395429.1:p.Leu264Phefs frameshift NM_001408501.1:c.790_794delTTAAC NP_001395430.1:p.Leu264Phefs frameshift NM_001408502.1:c.787_791delTTAAC NP_001395431.1:p.Leu263Phefs frameshift NM_001408503.1:c.787_791delTTAAC NP_001395432.1:p.Leu263Phefs frameshift NM_001408504.1:c.787_791delTTAAC NP_001395433.1:p.Leu263Phefs frameshift NM_001408505.1:c.784_788delTTAAC NP_001395434.1:p.Leu262Phefs frameshift NM_001408506.1:c.727_731delTTAAC NP_001395435.1:p.Leu243Phefs frameshift NM_001408507.1:c.724_728delTTAAC NP_001395436.1:p.Leu242Phefs frameshift NM_001408508.1:c.715_719delTTAAC NP_001395437.1:p.Leu239Phefs frameshift NM_001408509.1:c.712_716delTTAAC NP_001395438.1:p.Leu238Phefs frameshift NM_001408510.1:c.673_677delTTAAC NP_001395439.1:p.Leu225Phefs frameshift NM_001408511.1:c.670_674delTTAAC NP_001395440.1:p.Leu224Phefs frameshift NM_001408512.1:c.550_554delTTAAC NP_001395441.1:p.Leu184Phefs frameshift NM_007294.3:c.4365_4369delAACTT frameshift NM_007297.4:c.4224_4228del NP_009228.2:p.Leu1408fs frameshift NM_007298.4:c.1051_1055delTTAAC NP_009229.2:p.Leu351Phefs frameshift NM_007299.4:c.1053_1057del NP_009230.2:p.Leu351fs frameshift NM_007300.4:c.4428_4432del NP_009231.2:p.Leu1476fs frameshift NM_007304.2:c.1051_1055delTTAAC NP_009235.2:p.Leu351Phefs frameshift NR_027676.2:n.4542_4546del non-coding transcript variant NC_000017.11:g.43076605_43076609del NC_000017.10:g.41228622_41228626del NG_005905.2:g.141377_141381del LRG_292:g.141377_141381del LRG_292t1:c.4363_4367del LRG_292p1:p.Leu1455Phefs - Protein change
- L351fs, L1476fs, L1408fs, L1455fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076602:AAGTTAA:AA
-
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 |
13071 | 14880 | |
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. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Jun 10, 2022 | RCV002332381.2 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Jun 10, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002632960.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.4365_4369delAACTT pathogenic mutation, located in coding exon 12 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 4365 to … (more)
The c.4365_4369delAACTT pathogenic mutation, located in coding exon 12 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 4365 to 4369, causing a translational frameshift with a predicted alternate stop codon (p.L1455Ffs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (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:
The c.4365_4369delAACTT pathogenic mutation, located in coding exon 12 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 4365 to 4369, causing a translational frameshift with a predicted alternate stop codon (p.L1455Ffs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
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 May 01, 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.