This variant deletes 4 nucleotides in exon 15 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in at least two suspected hereditary breast and ovarian cancer families (PMID: 27425403, 29161300, 29907814; Color internal data). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs)
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.
(3)
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
3
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs)
Variation ID: 491087 Accession: VCV000491087.14
- Type and length
-
Deletion, 4 bp
- Location
-
Cytogenetic: 17q21.31 17: 43071175-43071178 (GRCh38) [ NCBI UCSC ] 17: 41223192-41223195 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 19, 2018 Feb 14, 2024 May 4, 2022 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4736_4739del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1579fs frameshift NM_001407571.1:c.4521_4524delTCCT NP_001394500.1:p.Pro1508Leufs frameshift NM_001407581.1:c.4800_4803delTCCT NP_001394510.1:p.Pro1601Leufs frameshift NM_001407582.1:c.4800_4803delTCCT NP_001394511.1:p.Pro1601Leufs frameshift NM_001407583.1:c.4797_4800delTCCT NP_001394512.1:p.Pro1600Leufs frameshift NM_001407585.1:c.4797_4800delTCCT NP_001394514.1:p.Pro1600Leufs frameshift NM_001407587.1:c.4797_4800delTCCT NP_001394516.1:p.Pro1600Leufs frameshift NM_001407590.1:c.4794_4797delTCCT NP_001394519.1:p.Pro1599Leufs frameshift NM_001407591.1:c.4794_4797delTCCT NP_001394520.1:p.Pro1599Leufs frameshift NM_001407593.1:c.4734_4737delTCCT NP_001394522.1:p.Pro1579Leufs frameshift NM_001407594.1:c.4734_4737delTCCT NP_001394523.1:p.Pro1579Leufs frameshift NM_001407596.1:c.4734_4737delTCCT NP_001394525.1:p.Pro1579Leufs frameshift NM_001407597.1:c.4734_4737delTCCT NP_001394526.1:p.Pro1579Leufs frameshift NM_001407598.1:c.4734_4737delTCCT NP_001394527.1:p.Pro1579Leufs frameshift NM_001407602.1:c.4734_4737delTCCT NP_001394531.1:p.Pro1579Leufs frameshift NM_001407603.1:c.4734_4737delTCCT NP_001394532.1:p.Pro1579Leufs frameshift NM_001407605.1:c.4734_4737delTCCT NP_001394534.1:p.Pro1579Leufs frameshift NM_001407610.1:c.4731_4734delTCCT NP_001394539.1:p.Pro1578Leufs frameshift NM_001407611.1:c.4731_4734delTCCT NP_001394540.1:p.Pro1578Leufs frameshift NM_001407612.1:c.4731_4734delTCCT NP_001394541.1:p.Pro1578Leufs frameshift NM_001407613.1:c.4731_4734delTCCT NP_001394542.1:p.Pro1578Leufs frameshift NM_001407614.1:c.4731_4734delTCCT NP_001394543.1:p.Pro1578Leufs frameshift NM_001407615.1:c.4731_4734delTCCT NP_001394544.1:p.Pro1578Leufs frameshift NM_001407616.1:c.4731_4734delTCCT NP_001394545.1:p.Pro1578Leufs frameshift NM_001407617.1:c.4731_4734delTCCT NP_001394546.1:p.Pro1578Leufs frameshift NM_001407618.1:c.4731_4734delTCCT NP_001394547.1:p.Pro1578Leufs frameshift NM_001407619.1:c.4731_4734delTCCT NP_001394548.1:p.Pro1578Leufs frameshift NM_001407620.1:c.4731_4734delTCCT NP_001394549.1:p.Pro1578Leufs frameshift NM_001407621.1:c.4731_4734delTCCT NP_001394550.1:p.Pro1578Leufs frameshift NM_001407622.1:c.4731_4734delTCCT NP_001394551.1:p.Pro1578Leufs frameshift NM_001407623.1:c.4731_4734delTCCT NP_001394552.1:p.Pro1578Leufs frameshift NM_001407624.1:c.4731_4734delTCCT NP_001394553.1:p.Pro1578Leufs frameshift NM_001407625.1:c.4731_4734delTCCT NP_001394554.1:p.Pro1578Leufs frameshift NM_001407626.1:c.4731_4734delTCCT NP_001394555.1:p.Pro1578Leufs frameshift NM_001407627.1:c.4728_4731delTCCT NP_001394556.1:p.Pro1577Leufs frameshift NM_001407628.1:c.4728_4731delTCCT NP_001394557.1:p.Pro1577Leufs frameshift NM_001407629.1:c.4728_4731delTCCT NP_001394558.1:p.Pro1577Leufs frameshift NM_001407630.1:c.4728_4731delTCCT NP_001394559.1:p.Pro1577Leufs frameshift NM_001407631.1:c.4728_4731delTCCT NP_001394560.1:p.Pro1577Leufs frameshift NM_001407632.1:c.4728_4731delTCCT NP_001394561.1:p.Pro1577Leufs frameshift NM_001407633.1:c.4728_4731delTCCT NP_001394562.1:p.Pro1577Leufs frameshift NM_001407634.1:c.4728_4731delTCCT NP_001394563.1:p.Pro1577Leufs frameshift NM_001407635.1:c.4728_4731delTCCT NP_001394564.1:p.Pro1577Leufs frameshift NM_001407636.1:c.4728_4731delTCCT NP_001394565.1:p.Pro1577Leufs frameshift NM_001407637.1:c.4728_4731delTCCT NP_001394566.1:p.Pro1577Leufs frameshift NM_001407638.1:c.4728_4731delTCCT NP_001394567.1:p.Pro1577Leufs frameshift NM_001407639.1:c.4728_4731delTCCT NP_001394568.1:p.Pro1577Leufs frameshift NM_001407640.1:c.4728_4731delTCCT NP_001394569.1:p.Pro1577Leufs frameshift NM_001407641.1:c.4728_4731delTCCT NP_001394570.1:p.Pro1577Leufs frameshift NM_001407642.1:c.4728_4731delTCCT NP_001394571.1:p.Pro1577Leufs frameshift NM_001407644.1:c.4725_4728delTCCT NP_001394573.1:p.Pro1576Leufs frameshift NM_001407645.1:c.4725_4728delTCCT NP_001394574.1:p.Pro1576Leufs frameshift NM_001407646.1:c.4722_4725delTCCT NP_001394575.1:p.Pro1575Leufs frameshift NM_001407647.1:c.4719_4722delTCCT NP_001394576.1:p.Pro1574Leufs frameshift NM_001407648.1:c.4677_4680delTCCT NP_001394577.1:p.Pro1560Leufs frameshift NM_001407649.1:c.4674_4677delTCCT NP_001394578.1:p.Pro1559Leufs frameshift NM_001407652.1:c.4734_4737delTCCT NP_001394581.1:p.Pro1579Leufs frameshift NM_001407653.1:c.4656_4659delTCCT NP_001394582.1:p.Pro1553Leufs frameshift NM_001407654.1:c.4656_4659delTCCT NP_001394583.1:p.Pro1553Leufs frameshift NM_001407655.1:c.4656_4659delTCCT NP_001394584.1:p.Pro1553Leufs frameshift NM_001407656.1:c.4653_4656delTCCT NP_001394585.1:p.Pro1552Leufs frameshift NM_001407657.1:c.4653_4656delTCCT NP_001394586.1:p.Pro1552Leufs frameshift NM_001407658.1:c.4653_4656delTCCT NP_001394587.1:p.Pro1552Leufs frameshift NM_001407659.1:c.4650_4653delTCCT NP_001394588.1:p.Pro1551Leufs frameshift NM_001407660.1:c.4650_4653delTCCT NP_001394589.1:p.Pro1551Leufs frameshift NM_001407661.1:c.4650_4653delTCCT NP_001394590.1:p.Pro1551Leufs frameshift NM_001407662.1:c.4650_4653delTCCT NP_001394591.1:p.Pro1551Leufs frameshift NM_001407663.1:c.4650_4653delTCCT NP_001394592.1:p.Pro1551Leufs frameshift NM_001407664.1:c.4611_4614delTCCT NP_001394593.1:p.Pro1538Leufs frameshift NM_001407665.1:c.4611_4614delTCCT NP_001394594.1:p.Pro1538Leufs frameshift NM_001407666.1:c.4611_4614delTCCT NP_001394595.1:p.Pro1538Leufs frameshift NM_001407667.1:c.4611_4614delTCCT NP_001394596.1:p.Pro1538Leufs frameshift NM_001407668.1:c.4611_4614delTCCT NP_001394597.1:p.Pro1538Leufs frameshift NM_001407669.1:c.4611_4614delTCCT NP_001394598.1:p.Pro1538Leufs frameshift NM_001407670.1:c.4608_4611delTCCT NP_001394599.1:p.Pro1537Leufs frameshift NM_001407671.1:c.4608_4611delTCCT NP_001394600.1:p.Pro1537Leufs frameshift NM_001407672.1:c.4608_4611delTCCT NP_001394601.1:p.Pro1537Leufs frameshift NM_001407673.1:c.4608_4611delTCCT NP_001394602.1:p.Pro1537Leufs frameshift NM_001407674.1:c.4608_4611delTCCT NP_001394603.1:p.Pro1537Leufs frameshift NM_001407675.1:c.4608_4611delTCCT NP_001394604.1:p.Pro1537Leufs frameshift NM_001407676.1:c.4608_4611delTCCT NP_001394605.1:p.Pro1537Leufs frameshift NM_001407677.1:c.4608_4611delTCCT NP_001394606.1:p.Pro1537Leufs frameshift NM_001407678.1:c.4608_4611delTCCT NP_001394607.1:p.Pro1537Leufs frameshift NM_001407679.1:c.4608_4611delTCCT NP_001394608.1:p.Pro1537Leufs frameshift NM_001407680.1:c.4608_4611delTCCT NP_001394609.1:p.Pro1537Leufs frameshift NM_001407681.1:c.4605_4608delTCCT NP_001394610.1:p.Pro1536Leufs frameshift NM_001407682.1:c.4605_4608delTCCT NP_001394611.1:p.Pro1536Leufs frameshift NM_001407683.1:c.4605_4608delTCCT NP_001394612.1:p.Pro1536Leufs frameshift NM_001407684.1:c.4734_4737delTCCT NP_001394613.1:p.Pro1579Leufs frameshift NM_001407685.1:c.4605_4608delTCCT NP_001394614.1:p.Pro1536Leufs frameshift NM_001407686.1:c.4605_4608delTCCT NP_001394615.1:p.Pro1536Leufs frameshift NM_001407687.1:c.4605_4608delTCCT NP_001394616.1:p.Pro1536Leufs frameshift NM_001407688.1:c.4605_4608delTCCT NP_001394617.1:p.Pro1536Leufs frameshift NM_001407689.1:c.4605_4608delTCCT NP_001394618.1:p.Pro1536Leufs frameshift NM_001407690.1:c.4602_4605delTCCT NP_001394619.1:p.Pro1535Leufs frameshift NM_001407691.1:c.4602_4605delTCCT NP_001394620.1:p.Pro1535Leufs frameshift NM_001407692.1:c.4593_4596delTCCT NP_001394621.1:p.Pro1532Leufs frameshift NM_001407694.1:c.4593_4596delTCCT NP_001394623.1:p.Pro1532Leufs frameshift NM_001407695.1:c.4593_4596delTCCT NP_001394624.1:p.Pro1532Leufs frameshift NM_001407696.1:c.4593_4596delTCCT NP_001394625.1:p.Pro1532Leufs frameshift NM_001407697.1:c.4593_4596delTCCT NP_001394626.1:p.Pro1532Leufs frameshift NM_001407698.1:c.4593_4596delTCCT NP_001394627.1:p.Pro1532Leufs frameshift NM_001407724.1:c.4593_4596delTCCT NP_001394653.1:p.Pro1532Leufs frameshift NM_001407725.1:c.4593_4596delTCCT NP_001394654.1:p.Pro1532Leufs frameshift NM_001407726.1:c.4593_4596delTCCT NP_001394655.1:p.Pro1532Leufs frameshift NM_001407727.1:c.4593_4596delTCCT NP_001394656.1:p.Pro1532Leufs frameshift NM_001407728.1:c.4593_4596delTCCT NP_001394657.1:p.Pro1532Leufs frameshift NM_001407729.1:c.4593_4596delTCCT NP_001394658.1:p.Pro1532Leufs frameshift NM_001407730.1:c.4593_4596delTCCT NP_001394659.1:p.Pro1532Leufs frameshift NM_001407731.1:c.4593_4596delTCCT NP_001394660.1:p.Pro1532Leufs frameshift NM_001407732.1:c.4590_4593delTCCT NP_001394661.1:p.Pro1531Leufs frameshift NM_001407733.1:c.4590_4593delTCCT NP_001394662.1:p.Pro1531Leufs frameshift NM_001407734.1:c.4590_4593delTCCT NP_001394663.1:p.Pro1531Leufs frameshift NM_001407735.1:c.4590_4593delTCCT NP_001394664.1:p.Pro1531Leufs frameshift NM_001407736.1:c.4590_4593delTCCT NP_001394665.1:p.Pro1531Leufs frameshift NM_001407737.1:c.4590_4593delTCCT NP_001394666.1:p.Pro1531Leufs frameshift NM_001407738.1:c.4590_4593delTCCT NP_001394667.1:p.Pro1531Leufs frameshift NM_001407739.1:c.4590_4593delTCCT NP_001394668.1:p.Pro1531Leufs frameshift NM_001407740.1:c.4590_4593delTCCT NP_001394669.1:p.Pro1531Leufs frameshift NM_001407741.1:c.4590_4593delTCCT NP_001394670.1:p.Pro1531Leufs frameshift NM_001407742.1:c.4590_4593delTCCT NP_001394671.1:p.Pro1531Leufs frameshift NM_001407743.1:c.4590_4593delTCCT NP_001394672.1:p.Pro1531Leufs frameshift NM_001407744.1:c.4590_4593delTCCT NP_001394673.1:p.Pro1531Leufs frameshift NM_001407745.1:c.4590_4593delTCCT NP_001394674.1:p.Pro1531Leufs frameshift NM_001407746.1:c.4590_4593delTCCT NP_001394675.1:p.Pro1531Leufs frameshift NM_001407747.1:c.4590_4593delTCCT NP_001394676.1:p.Pro1531Leufs frameshift NM_001407748.1:c.4590_4593delTCCT NP_001394677.1:p.Pro1531Leufs frameshift NM_001407749.1:c.4590_4593delTCCT NP_001394678.1:p.Pro1531Leufs frameshift NM_001407750.1:c.4590_4593delTCCT NP_001394679.1:p.Pro1531Leufs frameshift NM_001407751.1:c.4590_4593delTCCT NP_001394680.1:p.Pro1531Leufs frameshift NM_001407752.1:c.4590_4593delTCCT NP_001394681.1:p.Pro1531Leufs frameshift NM_001407838.1:c.4587_4590delTCCT NP_001394767.1:p.Pro1530Leufs frameshift NM_001407839.1:c.4587_4590delTCCT NP_001394768.1:p.Pro1530Leufs frameshift NM_001407841.1:c.4587_4590delTCCT NP_001394770.1:p.Pro1530Leufs frameshift NM_001407842.1:c.4587_4590delTCCT NP_001394771.1:p.Pro1530Leufs frameshift NM_001407843.1:c.4587_4590delTCCT NP_001394772.1:p.Pro1530Leufs frameshift NM_001407844.1:c.4587_4590delTCCT NP_001394773.1:p.Pro1530Leufs frameshift NM_001407845.1:c.4587_4590delTCCT NP_001394774.1:p.Pro1530Leufs frameshift NM_001407846.1:c.4587_4590delTCCT NP_001394775.1:p.Pro1530Leufs frameshift NM_001407847.1:c.4587_4590delTCCT NP_001394776.1:p.Pro1530Leufs frameshift NM_001407848.1:c.4587_4590delTCCT NP_001394777.1:p.Pro1530Leufs frameshift NM_001407849.1:c.4587_4590delTCCT NP_001394778.1:p.Pro1530Leufs frameshift NM_001407850.1:c.4587_4590delTCCT NP_001394779.1:p.Pro1530Leufs frameshift NM_001407851.1:c.4587_4590delTCCT NP_001394780.1:p.Pro1530Leufs frameshift NM_001407852.1:c.4587_4590delTCCT NP_001394781.1:p.Pro1530Leufs frameshift NM_001407853.1:c.4587_4590delTCCT NP_001394782.1:p.Pro1530Leufs frameshift NM_001407854.1:c.4734_4737delTCCT NP_001394783.1:p.Pro1579Leufs frameshift NM_001407858.1:c.4731_4734delTCCT NP_001394787.1:p.Pro1578Leufs frameshift NM_001407859.1:c.4731_4734delTCCT NP_001394788.1:p.Pro1578Leufs frameshift NM_001407860.1:c.4731_4734delTCCT NP_001394789.1:p.Pro1578Leufs frameshift NM_001407861.1:c.4728_4731delTCCT NP_001394790.1:p.Pro1577Leufs frameshift NM_001407862.1:c.4533_4536delTCCT NP_001394791.1:p.Pro1512Leufs frameshift NM_001407863.1:c.4608_4611delTCCT NP_001394792.1:p.Pro1537Leufs frameshift NM_001407874.1:c.4527_4530delTCCT NP_001394803.1:p.Pro1510Leufs frameshift NM_001407875.1:c.4527_4530delTCCT NP_001394804.1:p.Pro1510Leufs frameshift NM_001407879.1:c.4524_4527delTCCT NP_001394808.1:p.Pro1509Leufs frameshift NM_001407881.1:c.4524_4527delTCCT NP_001394810.1:p.Pro1509Leufs frameshift NM_001407882.1:c.4524_4527delTCCT NP_001394811.1:p.Pro1509Leufs frameshift NM_001407884.1:c.4524_4527delTCCT NP_001394813.1:p.Pro1509Leufs frameshift NM_001407885.1:c.4524_4527delTCCT NP_001394814.1:p.Pro1509Leufs frameshift NM_001407886.1:c.4524_4527delTCCT NP_001394815.1:p.Pro1509Leufs frameshift NM_001407887.1:c.4524_4527delTCCT NP_001394816.1:p.Pro1509Leufs frameshift NM_001407889.1:c.4524_4527delTCCT NP_001394818.1:p.Pro1509Leufs frameshift NM_001407894.1:c.4521_4524delTCCT NP_001394823.1:p.Pro1508Leufs frameshift NM_001407895.1:c.4521_4524delTCCT NP_001394824.1:p.Pro1508Leufs frameshift NM_001407896.1:c.4521_4524delTCCT NP_001394825.1:p.Pro1508Leufs frameshift NM_001407897.1:c.4521_4524delTCCT NP_001394826.1:p.Pro1508Leufs frameshift NM_001407898.1:c.4521_4524delTCCT NP_001394827.1:p.Pro1508Leufs frameshift NM_001407899.1:c.4521_4524delTCCT NP_001394828.1:p.Pro1508Leufs frameshift NM_001407900.1:c.4521_4524delTCCT NP_001394829.1:p.Pro1508Leufs frameshift NM_001407902.1:c.4521_4524delTCCT NP_001394831.1:p.Pro1508Leufs frameshift NM_001407904.1:c.4521_4524delTCCT NP_001394833.1:p.Pro1508Leufs frameshift NM_001407906.1:c.4521_4524delTCCT NP_001394835.1:p.Pro1508Leufs frameshift NM_001407907.1:c.4521_4524delTCCT NP_001394836.1:p.Pro1508Leufs frameshift NM_001407908.1:c.4521_4524delTCCT NP_001394837.1:p.Pro1508Leufs frameshift NM_001407909.1:c.4521_4524delTCCT NP_001394838.1:p.Pro1508Leufs frameshift NM_001407910.1:c.4521_4524delTCCT NP_001394839.1:p.Pro1508Leufs frameshift NM_001407915.1:c.4518_4521delTCCT NP_001394844.1:p.Pro1507Leufs frameshift NM_001407916.1:c.4518_4521delTCCT NP_001394845.1:p.Pro1507Leufs frameshift NM_001407917.1:c.4518_4521delTCCT NP_001394846.1:p.Pro1507Leufs frameshift NM_001407918.1:c.4518_4521delTCCT NP_001394847.1:p.Pro1507Leufs frameshift NM_001407919.1:c.4611_4614delTCCT NP_001394848.1:p.Pro1538Leufs frameshift NM_001407920.1:c.4470_4473delTCCT NP_001394849.1:p.Pro1491Leufs frameshift NM_001407921.1:c.4470_4473delTCCT NP_001394850.1:p.Pro1491Leufs frameshift NM_001407922.1:c.4470_4473delTCCT NP_001394851.1:p.Pro1491Leufs frameshift NM_001407923.1:c.4470_4473delTCCT NP_001394852.1:p.Pro1491Leufs frameshift NM_001407924.1:c.4470_4473delTCCT NP_001394853.1:p.Pro1491Leufs frameshift NM_001407925.1:c.4470_4473delTCCT NP_001394854.1:p.Pro1491Leufs frameshift NM_001407926.1:c.4470_4473delTCCT NP_001394855.1:p.Pro1491Leufs frameshift NM_001407927.1:c.4467_4470delTCCT NP_001394856.1:p.Pro1490Leufs frameshift NM_001407928.1:c.4467_4470delTCCT NP_001394857.1:p.Pro1490Leufs frameshift NM_001407929.1:c.4467_4470delTCCT NP_001394858.1:p.Pro1490Leufs frameshift NM_001407930.1:c.4467_4470delTCCT NP_001394859.1:p.Pro1490Leufs frameshift NM_001407931.1:c.4467_4470delTCCT NP_001394860.1:p.Pro1490Leufs frameshift NM_001407932.1:c.4467_4470delTCCT NP_001394861.1:p.Pro1490Leufs frameshift NM_001407933.1:c.4467_4470delTCCT NP_001394862.1:p.Pro1490Leufs frameshift NM_001407934.1:c.4464_4467delTCCT NP_001394863.1:p.Pro1489Leufs frameshift NM_001407935.1:c.4464_4467delTCCT NP_001394864.1:p.Pro1489Leufs frameshift NM_001407936.1:c.4464_4467delTCCT NP_001394865.1:p.Pro1489Leufs frameshift NM_001407937.1:c.4611_4614delTCCT NP_001394866.1:p.Pro1538Leufs frameshift NM_001407938.1:c.4611_4614delTCCT NP_001394867.1:p.Pro1538Leufs frameshift NM_001407939.1:c.4608_4611delTCCT NP_001394868.1:p.Pro1537Leufs frameshift NM_001407940.1:c.4608_4611delTCCT NP_001394869.1:p.Pro1537Leufs frameshift NM_001407941.1:c.4605_4608delTCCT NP_001394870.1:p.Pro1536Leufs frameshift NM_001407942.1:c.4593_4596delTCCT NP_001394871.1:p.Pro1532Leufs frameshift NM_001407943.1:c.4590_4593delTCCT NP_001394872.1:p.Pro1531Leufs frameshift NM_001407944.1:c.4590_4593delTCCT NP_001394873.1:p.Pro1531Leufs frameshift NM_001407945.1:c.4590_4593delTCCT NP_001394874.1:p.Pro1531Leufs frameshift NM_001407946.1:c.4401_4404delTCCT NP_001394875.1:p.Pro1468Leufs frameshift NM_001407947.1:c.4401_4404delTCCT NP_001394876.1:p.Pro1468Leufs frameshift NM_001407948.1:c.4401_4404delTCCT NP_001394877.1:p.Pro1468Leufs frameshift NM_001407949.1:c.4401_4404delTCCT NP_001394878.1:p.Pro1468Leufs frameshift NM_001407950.1:c.4398_4401delTCCT NP_001394879.1:p.Pro1467Leufs frameshift NM_001407951.1:c.4398_4401delTCCT NP_001394880.1:p.Pro1467Leufs frameshift NM_001407952.1:c.4398_4401delTCCT NP_001394881.1:p.Pro1467Leufs frameshift NM_001407953.1:c.4398_4401delTCCT NP_001394882.1:p.Pro1467Leufs frameshift NM_001407954.1:c.4398_4401delTCCT NP_001394883.1:p.Pro1467Leufs frameshift NM_001407955.1:c.4398_4401delTCCT NP_001394884.1:p.Pro1467Leufs frameshift NM_001407956.1:c.4395_4398delTCCT NP_001394885.1:p.Pro1466Leufs frameshift NM_001407957.1:c.4395_4398delTCCT NP_001394886.1:p.Pro1466Leufs frameshift NM_001407958.1:c.4395_4398delTCCT NP_001394887.1:p.Pro1466Leufs frameshift NM_001407959.1:c.4353_4356delTCCT NP_001394888.1:p.Pro1452Leufs frameshift NM_001407960.1:c.4350_4353delTCCT NP_001394889.1:p.Pro1451Leufs frameshift NM_001407962.1:c.4350_4353delTCCT NP_001394891.1:p.Pro1451Leufs frameshift NM_001407963.1:c.4347_4350delTCCT NP_001394892.1:p.Pro1450Leufs frameshift NM_001407964.1:c.4272_4275delTCCT NP_001394893.1:p.Pro1425Leufs frameshift NM_001407965.1:c.4227_4230delTCCT NP_001394894.1:p.Pro1410Leufs frameshift NM_001407966.1:c.3846_3849delTCCT NP_001394895.1:p.Pro1283Leufs frameshift NM_001407967.1:c.3843_3846delTCCT NP_001394896.1:p.Pro1282Leufs frameshift NM_001407968.1:c.2130_2133delTCCT NP_001394897.1:p.Pro711Leufs frameshift NM_001407969.1:c.2127_2130delTCCT NP_001394898.1:p.Pro710Leufs frameshift NM_001407970.1:c.1491_1494delTCCT NP_001394899.1:p.Pro498Leufs frameshift NM_001407971.1:c.1491_1494delTCCT NP_001394900.1:p.Pro498Leufs frameshift NM_001407972.1:c.1488_1491delTCCT NP_001394901.1:p.Pro497Leufs frameshift NM_001407973.1:c.1425_1428delTCCT NP_001394902.1:p.Pro476Leufs frameshift NM_001407974.1:c.1425_1428delTCCT NP_001394903.1:p.Pro476Leufs frameshift NM_001407975.1:c.1425_1428delTCCT NP_001394904.1:p.Pro476Leufs frameshift NM_001407976.1:c.1425_1428delTCCT NP_001394905.1:p.Pro476Leufs frameshift NM_001407977.1:c.1425_1428delTCCT NP_001394906.1:p.Pro476Leufs frameshift NM_001407978.1:c.1425_1428delTCCT NP_001394907.1:p.Pro476Leufs frameshift NM_001407979.1:c.1422_1425delTCCT NP_001394908.1:p.Pro475Leufs frameshift NM_001407980.1:c.1422_1425delTCCT NP_001394909.1:p.Pro475Leufs frameshift NM_001407981.1:c.1422_1425delTCCT NP_001394910.1:p.Pro475Leufs frameshift NM_001407982.1:c.1422_1425delTCCT NP_001394911.1:p.Pro475Leufs frameshift NM_001407983.1:c.1422_1425delTCCT NP_001394912.1:p.Pro475Leufs frameshift NM_001407984.1:c.1422_1425delTCCT NP_001394913.1:p.Pro475Leufs frameshift NM_001407985.1:c.1422_1425delTCCT NP_001394914.1:p.Pro475Leufs frameshift NM_001407986.1:c.1422_1425delTCCT NP_001394915.1:p.Pro475Leufs frameshift NM_001407990.1:c.1422_1425delTCCT NP_001394919.1:p.Pro475Leufs frameshift NM_001407991.1:c.1422_1425delTCCT NP_001394920.1:p.Pro475Leufs frameshift NM_001407992.1:c.1422_1425delTCCT NP_001394921.1:p.Pro475Leufs frameshift NM_001407993.1:c.1422_1425delTCCT NP_001394922.1:p.Pro475Leufs frameshift NM_001408392.1:c.1419_1422delTCCT NP_001395321.1:p.Pro474Leufs frameshift NM_001408396.1:c.1419_1422delTCCT NP_001395325.1:p.Pro474Leufs frameshift NM_001408397.1:c.1419_1422delTCCT NP_001395326.1:p.Pro474Leufs frameshift NM_001408398.1:c.1419_1422delTCCT NP_001395327.1:p.Pro474Leufs frameshift NM_001408399.1:c.1419_1422delTCCT NP_001395328.1:p.Pro474Leufs frameshift NM_001408400.1:c.1419_1422delTCCT NP_001395329.1:p.Pro474Leufs frameshift NM_001408401.1:c.1419_1422delTCCT NP_001395330.1:p.Pro474Leufs frameshift NM_001408402.1:c.1419_1422delTCCT NP_001395331.1:p.Pro474Leufs frameshift NM_001408403.1:c.1419_1422delTCCT NP_001395332.1:p.Pro474Leufs frameshift NM_001408404.1:c.1419_1422delTCCT NP_001395333.1:p.Pro474Leufs frameshift NM_001408406.1:c.1416_1419delTCCT NP_001395335.1:p.Pro473Leufs frameshift NM_001408407.1:c.1416_1419delTCCT NP_001395336.1:p.Pro473Leufs frameshift NM_001408408.1:c.1416_1419delTCCT NP_001395337.1:p.Pro473Leufs frameshift NM_001408409.1:c.1413_1416delTCCT NP_001395338.1:p.Pro472Leufs frameshift NM_001408410.1:c.1350_1353delTCCT NP_001395339.1:p.Pro451Leufs frameshift NM_001408411.1:c.1347_1350delTCCT NP_001395340.1:p.Pro450Leufs frameshift NM_001408412.1:c.1344_1347delTCCT NP_001395341.1:p.Pro449Leufs frameshift NM_001408413.1:c.1344_1347delTCCT NP_001395342.1:p.Pro449Leufs frameshift NM_001408414.1:c.1344_1347delTCCT NP_001395343.1:p.Pro449Leufs frameshift NM_001408415.1:c.1344_1347delTCCT NP_001395344.1:p.Pro449Leufs frameshift NM_001408416.1:c.1344_1347delTCCT NP_001395345.1:p.Pro449Leufs frameshift NM_001408418.1:c.1308_1311delTCCT NP_001395347.1:p.Pro437Leufs frameshift NM_001408419.1:c.1308_1311delTCCT NP_001395348.1:p.Pro437Leufs frameshift NM_001408420.1:c.1308_1311delTCCT NP_001395349.1:p.Pro437Leufs frameshift NM_001408421.1:c.1305_1308delTCCT NP_001395350.1:p.Pro436Leufs frameshift NM_001408422.1:c.1305_1308delTCCT NP_001395351.1:p.Pro436Leufs frameshift NM_001408423.1:c.1305_1308delTCCT NP_001395352.1:p.Pro436Leufs frameshift NM_001408424.1:c.1305_1308delTCCT NP_001395353.1:p.Pro436Leufs frameshift NM_001408425.1:c.1302_1305delTCCT NP_001395354.1:p.Pro435Leufs frameshift NM_001408426.1:c.1302_1305delTCCT NP_001395355.1:p.Pro435Leufs frameshift NM_001408427.1:c.1302_1305delTCCT NP_001395356.1:p.Pro435Leufs frameshift NM_001408428.1:c.1302_1305delTCCT NP_001395357.1:p.Pro435Leufs frameshift NM_001408429.1:c.1302_1305delTCCT NP_001395358.1:p.Pro435Leufs frameshift NM_001408430.1:c.1302_1305delTCCT NP_001395359.1:p.Pro435Leufs frameshift NM_001408431.1:c.1302_1305delTCCT NP_001395360.1:p.Pro435Leufs frameshift NM_001408432.1:c.1299_1302delTCCT NP_001395361.1:p.Pro434Leufs frameshift NM_001408433.1:c.1299_1302delTCCT NP_001395362.1:p.Pro434Leufs frameshift NM_001408434.1:c.1299_1302delTCCT NP_001395363.1:p.Pro434Leufs frameshift NM_001408435.1:c.1299_1302delTCCT NP_001395364.1:p.Pro434Leufs frameshift NM_001408436.1:c.1299_1302delTCCT NP_001395365.1:p.Pro434Leufs frameshift NM_001408437.1:c.1299_1302delTCCT NP_001395366.1:p.Pro434Leufs frameshift NM_001408438.1:c.1299_1302delTCCT NP_001395367.1:p.Pro434Leufs frameshift NM_001408439.1:c.1299_1302delTCCT NP_001395368.1:p.Pro434Leufs frameshift NM_001408440.1:c.1299_1302delTCCT NP_001395369.1:p.Pro434Leufs frameshift NM_001408441.1:c.1299_1302delTCCT NP_001395370.1:p.Pro434Leufs frameshift NM_001408442.1:c.1299_1302delTCCT NP_001395371.1:p.Pro434Leufs frameshift NM_001408443.1:c.1299_1302delTCCT NP_001395372.1:p.Pro434Leufs frameshift NM_001408444.1:c.1299_1302delTCCT NP_001395373.1:p.Pro434Leufs frameshift NM_001408445.1:c.1296_1299delTCCT NP_001395374.1:p.Pro433Leufs frameshift NM_001408446.1:c.1296_1299delTCCT NP_001395375.1:p.Pro433Leufs frameshift NM_001408447.1:c.1296_1299delTCCT NP_001395376.1:p.Pro433Leufs frameshift NM_001408448.1:c.1296_1299delTCCT NP_001395377.1:p.Pro433Leufs frameshift NM_001408450.1:c.1296_1299delTCCT NP_001395379.1:p.Pro433Leufs frameshift NM_001408451.1:c.1290_1293delTCCT NP_001395380.1:p.Pro431Leufs frameshift NM_001408452.1:c.1284_1287delTCCT NP_001395381.1:p.Pro429Leufs frameshift NM_001408453.1:c.1284_1287delTCCT NP_001395382.1:p.Pro429Leufs frameshift NM_001408454.1:c.1284_1287delTCCT NP_001395383.1:p.Pro429Leufs frameshift NM_001408455.1:c.1284_1287delTCCT NP_001395384.1:p.Pro429Leufs frameshift NM_001408456.1:c.1284_1287delTCCT NP_001395385.1:p.Pro429Leufs frameshift NM_001408457.1:c.1284_1287delTCCT NP_001395386.1:p.Pro429Leufs frameshift NM_001408458.1:c.1281_1284delTCCT NP_001395387.1:p.Pro428Leufs frameshift NM_001408459.1:c.1281_1284delTCCT NP_001395388.1:p.Pro428Leufs frameshift NM_001408460.1:c.1281_1284delTCCT NP_001395389.1:p.Pro428Leufs frameshift NM_001408461.1:c.1281_1284delTCCT NP_001395390.1:p.Pro428Leufs frameshift NM_001408462.1:c.1281_1284delTCCT NP_001395391.1:p.Pro428Leufs frameshift NM_001408463.1:c.1281_1284delTCCT NP_001395392.1:p.Pro428Leufs frameshift NM_001408464.1:c.1281_1284delTCCT NP_001395393.1:p.Pro428Leufs frameshift NM_001408465.1:c.1281_1284delTCCT NP_001395394.1:p.Pro428Leufs frameshift NM_001408466.1:c.1281_1284delTCCT NP_001395395.1:p.Pro428Leufs frameshift NM_001408467.1:c.1281_1284delTCCT NP_001395396.1:p.Pro428Leufs frameshift NM_001408468.1:c.1278_1281delTCCT NP_001395397.1:p.Pro427Leufs frameshift NM_001408469.1:c.1278_1281delTCCT NP_001395398.1:p.Pro427Leufs frameshift NM_001408470.1:c.1278_1281delTCCT NP_001395399.1:p.Pro427Leufs frameshift NM_001408472.1:c.1422_1425delTCCT NP_001395401.1:p.Pro475Leufs frameshift NM_001408473.1:c.1419_1422delTCCT NP_001395402.1:p.Pro474Leufs frameshift NM_001408474.1:c.1224_1227delTCCT NP_001395403.1:p.Pro409Leufs frameshift NM_001408475.1:c.1221_1224delTCCT NP_001395404.1:p.Pro408Leufs frameshift NM_001408476.1:c.1221_1224delTCCT NP_001395405.1:p.Pro408Leufs frameshift NM_001408478.1:c.1215_1218delTCCT NP_001395407.1:p.Pro406Leufs frameshift NM_001408479.1:c.1215_1218delTCCT NP_001395408.1:p.Pro406Leufs frameshift NM_001408480.1:c.1215_1218delTCCT NP_001395409.1:p.Pro406Leufs frameshift NM_001408481.1:c.1212_1215delTCCT NP_001395410.1:p.Pro405Leufs frameshift NM_001408482.1:c.1212_1215delTCCT NP_001395411.1:p.Pro405Leufs frameshift NM_001408483.1:c.1212_1215delTCCT NP_001395412.1:p.Pro405Leufs frameshift NM_001408484.1:c.1212_1215delTCCT NP_001395413.1:p.Pro405Leufs frameshift NM_001408485.1:c.1212_1215delTCCT NP_001395414.1:p.Pro405Leufs frameshift NM_001408489.1:c.1212_1215delTCCT NP_001395418.1:p.Pro405Leufs frameshift NM_001408490.1:c.1212_1215delTCCT NP_001395419.1:p.Pro405Leufs frameshift NM_001408491.1:c.1212_1215delTCCT NP_001395420.1:p.Pro405Leufs frameshift NM_001408492.1:c.1209_1212delTCCT NP_001395421.1:p.Pro404Leufs frameshift NM_001408493.1:c.1209_1212delTCCT NP_001395422.1:p.Pro404Leufs frameshift NM_001408494.1:c.1185_1188delTCCT NP_001395423.1:p.Pro396Leufs frameshift NM_001408495.1:c.1179_1182delTCCT NP_001395424.1:p.Pro394Leufs frameshift NM_001408496.1:c.1161_1164delTCCT NP_001395425.1:p.Pro388Leufs frameshift NM_001408497.1:c.1161_1164delTCCT NP_001395426.1:p.Pro388Leufs frameshift NM_001408498.1:c.1161_1164delTCCT NP_001395427.1:p.Pro388Leufs frameshift NM_001408499.1:c.1161_1164delTCCT NP_001395428.1:p.Pro388Leufs frameshift NM_001408500.1:c.1161_1164delTCCT NP_001395429.1:p.Pro388Leufs frameshift NM_001408501.1:c.1161_1164delTCCT NP_001395430.1:p.Pro388Leufs frameshift NM_001408502.1:c.1158_1161delTCCT NP_001395431.1:p.Pro387Leufs frameshift NM_001408503.1:c.1158_1161delTCCT NP_001395432.1:p.Pro387Leufs frameshift NM_001408504.1:c.1158_1161delTCCT NP_001395433.1:p.Pro387Leufs frameshift NM_001408505.1:c.1155_1158delTCCT NP_001395434.1:p.Pro386Leufs frameshift NM_001408506.1:c.1098_1101delTCCT NP_001395435.1:p.Pro367Leufs frameshift NM_001408507.1:c.1095_1098delTCCT NP_001395436.1:p.Pro366Leufs frameshift NM_001408508.1:c.1086_1089delTCCT NP_001395437.1:p.Pro363Leufs frameshift NM_001408509.1:c.1083_1086delTCCT NP_001395438.1:p.Pro362Leufs frameshift NM_001408510.1:c.1044_1047delTCCT NP_001395439.1:p.Pro349Leufs frameshift NM_001408511.1:c.1041_1044delTCCT NP_001395440.1:p.Pro348Leufs frameshift NM_001408512.1:c.921_924delTCCT NP_001395441.1:p.Pro308Leufs frameshift NM_001408513.1:c.894_897delTCCT NP_001395442.1:p.Pro299Leufs frameshift NM_007294.3:c.4734_4737delTCCT NP_009225.1:p.Pro1579Leufs frameshift NM_007294.3:c.4736_4739delCTTC frameshift NM_007297.4:c.4595_4598del NP_009228.2:p.Pro1532fs frameshift NM_007298.4:c.1422_1425delTCCT NP_009229.2:p.Pro475Leufs frameshift NM_007299.4:c.1424_1427del NP_009230.2:p.Pro475fs frameshift NM_007300.4:c.4799_4802del NP_009231.2:p.Pro1600fs frameshift NM_007304.2:c.1422_1425delTCCT NP_009235.2:p.Pro475Leufs frameshift NR_027676.2:n.4913_4916del non-coding transcript variant NC_000017.11:g.43071177_43071180del NC_000017.10:g.41223194_41223197del NG_005905.2:g.146806_146809del LRG_292:g.146806_146809del LRG_292t1:c.4736_4739del - Protein change
- P1532fs, P1600fs, P1579fs, P475fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071174:GAAGGA:GA
-
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 |
13041 | 14847 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Jan 15, 2021 | RCV000581837.11 | |
| Pathogenic (1) |
criteria provided, single submitter
|
May 28, 2019 | RCV000989878.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
May 4, 2022 | RCV001210327.16 |
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
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140510.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
|
Pathogenic
(Jan 15, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000688518.2
First in ClinVar: Feb 19, 2018 Last updated: Jun 19, 2021 |
Comment:
This variant deletes 4 nucleotides in exon 15 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 4 nucleotides in exon 15 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in at least two suspected hereditary breast and ovarian cancer families (PMID: 27425403, 29161300, 29907814; Color internal data). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
|
Pathogenic
(May 04, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001381810.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 14, 2024 |
Comment:
ClinVar contains an entry for this variant (Variation ID: 491087). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal … (more)
ClinVar contains an entry for this variant (Variation ID: 491087). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hereditary breast and ovarian cancer syndrome (PMID: 27425403, 29161300, 29907814). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro1579Leufs*21) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
|
Comment:
Comment:
ClinVar contains an entry for this variant (Variation ID: 491087). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hereditary breast and ovarian cancer syndrome (PMID: 27425403, 29161300, 29907814). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro1579Leufs*21) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
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 deletes 4 nucleotides in exon 15 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in at least two suspected hereditary breast and ovarian cancer families (PMID: 27425403, 29161300, 29907814; Color internal data). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
ClinVar contains an entry for this variant (Variation ID: 491087). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hereditary breast and ovarian cancer syndrome (PMID: 27425403, 29161300, 29907814). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro1579Leufs*21) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
| BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? | Alemar B | PloS one | 2017 | PMID: 29161300 |
| Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. | Alemar B | Cancer genetics | 2016 | PMID: 27425403 |
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs1555581017 ...
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 Nov 03, 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.