VCV000091667.21 - ClinVar

NM_007294.4(BRCA1):c.81-12del

Germline

Classification

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.

(6)

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.

Benign/Likely benign

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.81-12del

Variation ID: 91667 Accession: VCV000091667.21

Type and length

Deletion, 1 bp

Location

Cytogenetic: 17q21.31 17: 43115791 (GRCh38) [ NCBI UCSC ] 17: 41267808 (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	Apr 1, 2014	Feb 20, 2024	Dec 25, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_007294.4:c.81-12del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		intron variant
NM_007294.4:c.81-12delC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		intron variant
NM_001407571.1:c.-108-12del		intron variant
NM_001407581.1:c.81-12del		intron variant
NM_001407582.1:c.81-12del		intron variant
NM_001407583.1:c.81-12del		intron variant
NM_001407585.1:c.81-12del		intron variant
NM_001407587.1:c.81-12del		intron variant
NM_001407590.1:c.81-12del		intron variant
NM_001407591.1:c.81-12del		intron variant
NM_001407593.1:c.81-12del		intron variant
NM_001407594.1:c.81-12del		intron variant
NM_001407596.1:c.81-12del		intron variant
NM_001407597.1:c.81-12del		intron variant
NM_001407598.1:c.81-12del		intron variant
NM_001407602.1:c.81-12del		intron variant
NM_001407603.1:c.81-12del		intron variant
NM_001407605.1:c.81-12del		intron variant
NM_001407610.1:c.81-12del		intron variant
NM_001407611.1:c.81-12del		intron variant
NM_001407612.1:c.81-12del		intron variant
NM_001407613.1:c.81-12del		intron variant
NM_001407614.1:c.81-12del		intron variant
NM_001407615.1:c.81-12del		intron variant
NM_001407616.1:c.81-12del		intron variant
NM_001407617.1:c.81-12del		intron variant
NM_001407618.1:c.81-12del		intron variant
NM_001407619.1:c.81-12del		intron variant
NM_001407620.1:c.81-12del		intron variant
NM_001407621.1:c.81-12del		intron variant
NM_001407622.1:c.81-12del		intron variant
NM_001407623.1:c.81-12del		intron variant
NM_001407624.1:c.81-12del		intron variant
NM_001407625.1:c.81-12del		intron variant
NM_001407626.1:c.81-12del		intron variant
NM_001407627.1:c.81-12del		intron variant
NM_001407628.1:c.81-12del		intron variant
NM_001407629.1:c.81-12del		intron variant
NM_001407630.1:c.81-12del		intron variant
NM_001407631.1:c.81-12del		intron variant
NM_001407632.1:c.81-12del		intron variant
NM_001407633.1:c.81-12del		intron variant
NM_001407634.1:c.81-12del		intron variant
NM_001407635.1:c.81-12del		intron variant
NM_001407636.1:c.81-12del		intron variant
NM_001407637.1:c.81-12del		intron variant
NM_001407638.1:c.81-12del		intron variant
NM_001407639.1:c.81-12del		intron variant
NM_001407640.1:c.81-12del		intron variant
NM_001407641.1:c.81-12del		intron variant
NM_001407642.1:c.81-12del		intron variant
NM_001407644.1:c.81-12del		intron variant
NM_001407645.1:c.81-12del		intron variant
NM_001407646.1:c.81-12del		intron variant
NM_001407647.1:c.81-12del		intron variant
NM_001407648.1:c.81-12del		intron variant
NM_001407649.1:c.81-12del		intron variant
NM_001407652.1:c.81-12del		intron variant
NM_001407653.1:c.81-12del		intron variant
NM_001407654.1:c.81-12del		intron variant
NM_001407655.1:c.81-12del		intron variant
NM_001407656.1:c.81-12del		intron variant
NM_001407657.1:c.81-12del		intron variant
NM_001407658.1:c.81-12del		intron variant
NM_001407659.1:c.81-12del		intron variant
NM_001407660.1:c.81-12del		intron variant
NM_001407661.1:c.81-12del		intron variant
NM_001407662.1:c.81-12del		intron variant
NM_001407663.1:c.81-12del		intron variant
NM_001407664.1:c.81-12del		intron variant
NM_001407665.1:c.81-12del		intron variant
NM_001407666.1:c.81-12del		intron variant
NM_001407667.1:c.81-12del		intron variant
NM_001407668.1:c.81-12del		intron variant
NM_001407669.1:c.81-12del		intron variant
NM_001407670.1:c.81-12del		intron variant
NM_001407671.1:c.81-12del		intron variant
NM_001407672.1:c.81-12del		intron variant
NM_001407673.1:c.81-12del		intron variant
NM_001407674.1:c.81-12del		intron variant
NM_001407675.1:c.81-12del		intron variant
NM_001407676.1:c.81-12del		intron variant
NM_001407677.1:c.81-12del		intron variant
NM_001407678.1:c.81-12del		intron variant
NM_001407679.1:c.81-12del		intron variant
NM_001407680.1:c.81-12del		intron variant
NM_001407681.1:c.81-12del		intron variant
NM_001407682.1:c.81-12del		intron variant
NM_001407683.1:c.81-12del		intron variant
NM_001407684.1:c.81-12del		intron variant
NM_001407685.1:c.81-12del		intron variant
NM_001407686.1:c.81-12del		intron variant
NM_001407687.1:c.81-12del		intron variant
NM_001407688.1:c.81-12del		intron variant
NM_001407689.1:c.81-12del		intron variant
NM_001407690.1:c.81-12del		intron variant
NM_001407691.1:c.81-12del		intron variant
NM_001407692.1:c.-7-9258del		intron variant
NM_001407694.1:c.-177-12del		intron variant
NM_001407695.1:c.-181-12del		intron variant
NM_001407696.1:c.-177-12del		intron variant
NM_001407697.1:c.-61-12del		intron variant
NM_001407698.1:c.-8+8226del		intron variant
NM_001407724.1:c.-177-12del		intron variant
NM_001407725.1:c.-61-12del		intron variant
NM_001407726.1:c.-8+5767del		intron variant
NM_001407727.1:c.-177-12del		intron variant
NM_001407728.1:c.-61-12del		intron variant
NM_001407729.1:c.-61-12del		intron variant
NM_001407730.1:c.-61-12del		intron variant
NM_001407731.1:c.-177-12del		intron variant
NM_001407732.1:c.-8+8226del		intron variant
NM_001407733.1:c.-177-12del		intron variant
NM_001407734.1:c.-61-12del		intron variant
NM_001407735.1:c.-61-12del		intron variant
NM_001407736.1:c.-8+8226del		intron variant
NM_001407737.1:c.-61-12del		intron variant
NM_001407738.1:c.-8+8226del		intron variant
NM_001407739.1:c.-61-12del		intron variant
NM_001407740.1:c.-61-12del		intron variant
NM_001407741.1:c.-61-12del		intron variant
NM_001407742.1:c.-8+8226del		intron variant
NM_001407743.1:c.-61-12del		intron variant
NM_001407744.1:c.-8+8226del		intron variant
NM_001407745.1:c.-61-12del		intron variant
NM_001407746.1:c.-177-12del		intron variant
NM_001407747.1:c.-7-9258del		intron variant
NM_001407748.1:c.-61-12del		intron variant
NM_001407749.1:c.-177-12del		intron variant
NM_001407750.1:c.-8+8226del		intron variant
NM_001407751.1:c.-8+5767del		intron variant
NM_001407752.1:c.-61-12del		intron variant
NM_001407838.1:c.-61-12del		intron variant
NM_001407839.1:c.-61-12del		intron variant
NM_001407841.1:c.-57-12del		intron variant
NM_001407842.1:c.-177-12del		intron variant
NM_001407843.1:c.-177-12del		intron variant
NM_001407844.1:c.-61-12del		intron variant
NM_001407845.1:c.-8+8226del		intron variant
NM_001407846.1:c.-61-12del		intron variant
NM_001407847.1:c.-61-12del		intron variant
NM_001407848.1:c.-61-12del		intron variant
NM_001407849.1:c.-8+8226del		intron variant
NM_001407850.1:c.-61-12del		intron variant
NM_001407851.1:c.-61-12del		intron variant
NM_001407852.1:c.-8+8226del		intron variant
NM_001407853.1:c.-108-12del		intron variant
NM_001407854.1:c.81-12del		intron variant
NM_001407858.1:c.81-12del		intron variant
NM_001407859.1:c.81-12del		intron variant
NM_001407860.1:c.81-12del		intron variant
NM_001407861.1:c.81-12del		intron variant
NM_001407862.1:c.81-12del		intron variant
NM_001407863.1:c.81-12del		intron variant
NM_001407874.1:c.81-12del		intron variant
NM_001407875.1:c.81-12del		intron variant
NM_001407879.1:c.-108-12del		intron variant
NM_001407881.1:c.-55+8226del		intron variant
NM_001407882.1:c.-108-12del		intron variant
NM_001407884.1:c.-108-12del		intron variant
NM_001407885.1:c.-108-12del		intron variant
NM_001407886.1:c.-108-12del		intron variant
NM_001407887.1:c.-108-12del		intron variant
NM_001407889.1:c.-224-12del		intron variant
NM_001407894.1:c.-108-12del		intron variant
NM_001407895.1:c.-108-12del		intron variant
NM_001407896.1:c.-108-12del		intron variant
NM_001407897.1:c.-108-12del		intron variant
NM_001407898.1:c.-55+8226del		intron variant
NM_001407899.1:c.-108-12del		intron variant
NM_001407900.1:c.-224-12del		intron variant
NM_001407902.1:c.-55+8226del		intron variant
NM_001407904.1:c.-108-12del		intron variant
NM_001407906.1:c.-108-12del		intron variant
NM_001407907.1:c.-108-12del		intron variant
NM_001407908.1:c.-108-12del		intron variant
NM_001407909.1:c.-108-12del		intron variant
NM_001407910.1:c.-108-12del		intron variant
NM_001407915.1:c.-108-12del		intron variant
NM_001407916.1:c.-108-12del		intron variant
NM_001407917.1:c.-108-12del		intron variant
NM_001407918.1:c.-108-12del		intron variant
NM_001407919.1:c.81-12del		intron variant
NM_001407920.1:c.-61-12del		intron variant
NM_001407921.1:c.-61-12del		intron variant
NM_001407922.1:c.-61-12del		intron variant
NM_001407923.1:c.-61-12del		intron variant
NM_001407924.1:c.-8+8226del		intron variant
NM_001407925.1:c.-8+8226del		intron variant
NM_001407926.1:c.-61-12del		intron variant
NM_001407927.1:c.-61-12del		intron variant
NM_001407928.1:c.-8+8226del		intron variant
NM_001407929.1:c.-8+8226del		intron variant
NM_001407930.1:c.-177-12del		intron variant
NM_001407931.1:c.-7-9258del		intron variant
NM_001407932.1:c.-8+8226del		intron variant
NM_001407933.1:c.-61-12del		intron variant
NM_001407934.1:c.-61-12del		intron variant
NM_001407935.1:c.-61-12del		intron variant
NM_001407936.1:c.-8+8226del		intron variant
NM_001407937.1:c.81-12del		intron variant
NM_001407938.1:c.81-12del		intron variant
NM_001407939.1:c.81-12del		intron variant
NM_001407940.1:c.81-12del		intron variant
NM_001407941.1:c.81-12del		intron variant
NM_001407942.1:c.-177-12del		intron variant
NM_001407943.1:c.-61-12del		intron variant
NM_001407944.1:c.-61-12del		intron variant
NM_001407945.1:c.-8+8226del		intron variant
NM_001407946.1:c.-108-12del		intron variant
NM_001407947.1:c.-108-12del		intron variant
NM_001407948.1:c.-108-12del		intron variant
NM_001407949.1:c.-108-12del		intron variant
NM_001407950.1:c.-108-12del		intron variant
NM_001407951.1:c.-108-12del		intron variant
NM_001407952.1:c.-108-12del		intron variant
NM_001407953.1:c.-108-12del		intron variant
NM_001407954.1:c.-108-12del		intron variant
NM_001407955.1:c.-108-12del		intron variant
NM_001407956.1:c.-108-12del		intron variant
NM_001407957.1:c.-108-12del		intron variant
NM_001407958.1:c.-108-12del		intron variant
NM_001407959.1:c.-170+9486del		intron variant
NM_001407960.1:c.-223-12del		intron variant
NM_001407962.1:c.-223-12del		intron variant
NM_001407963.1:c.-170+9480del		intron variant
NM_001407964.1:c.-61-12del		intron variant
NM_001407965.1:c.-339-12del		intron variant
NM_001407966.1:c.-219+9480del		intron variant
NM_001407967.1:c.-219+9486del		intron variant
NM_001407968.1:c.81-12del		intron variant
NM_001407969.1:c.81-12del		intron variant
NM_001407970.1:c.81-12del		intron variant
NM_001407971.1:c.81-12del		intron variant
NM_001407972.1:c.81-12del		intron variant
NM_001407973.1:c.81-12del		intron variant
NM_001407974.1:c.81-12del		intron variant
NM_001407975.1:c.81-12del		intron variant
NM_001407976.1:c.81-12del		intron variant
NM_001407977.1:c.81-12del		intron variant
NM_001407978.1:c.81-12del		intron variant
NM_001407979.1:c.81-12del		intron variant
NM_001407980.1:c.81-12del		intron variant
NM_001407981.1:c.81-12del		intron variant
NM_001407982.1:c.81-12del		intron variant
NM_001407983.1:c.81-12del		intron variant
NM_001407984.1:c.81-12del		intron variant
NM_001407985.1:c.81-12del		intron variant
NM_001407986.1:c.81-12del		intron variant
NM_001407990.1:c.81-12del		intron variant
NM_001407991.1:c.81-12del		intron variant
NM_001407992.1:c.81-12del		intron variant
NM_001407993.1:c.81-12del		intron variant
NM_001408392.1:c.81-12del		intron variant
NM_001408396.1:c.81-12del		intron variant
NM_001408397.1:c.81-12del		intron variant
NM_001408398.1:c.81-12del		intron variant
NM_001408399.1:c.81-12del		intron variant
NM_001408400.1:c.81-12del		intron variant
NM_001408401.1:c.81-12del		intron variant
NM_001408402.1:c.81-12del		intron variant
NM_001408403.1:c.81-12del		intron variant
NM_001408404.1:c.81-12del		intron variant
NM_001408406.1:c.81-12del		intron variant
NM_001408407.1:c.81-12del		intron variant
NM_001408408.1:c.81-12del		intron variant
NM_001408409.1:c.81-12del		intron variant
NM_001408410.1:c.-61-12del		intron variant
NM_001408411.1:c.81-12del		intron variant
NM_001408412.1:c.81-12del		intron variant
NM_001408413.1:c.81-12del		intron variant
NM_001408414.1:c.81-12del		intron variant
NM_001408415.1:c.81-12del		intron variant
NM_001408416.1:c.81-12del		intron variant
NM_001408418.1:c.81-12del		intron variant
NM_001408419.1:c.81-12del		intron variant
NM_001408420.1:c.81-12del		intron variant
NM_001408421.1:c.81-12del		intron variant
NM_001408422.1:c.81-12del		intron variant
NM_001408423.1:c.81-12del		intron variant
NM_001408424.1:c.81-12del		intron variant
NM_001408425.1:c.81-12del		intron variant
NM_001408426.1:c.81-12del		intron variant
NM_001408427.1:c.81-12del		intron variant
NM_001408428.1:c.81-12del		intron variant
NM_001408429.1:c.81-12del		intron variant
NM_001408430.1:c.81-12del		intron variant
NM_001408431.1:c.81-12del		intron variant
NM_001408432.1:c.81-12del		intron variant
NM_001408433.1:c.81-12del		intron variant
NM_001408434.1:c.81-12del		intron variant
NM_001408435.1:c.81-12del		intron variant
NM_001408436.1:c.81-12del		intron variant
NM_001408437.1:c.81-12del		intron variant
NM_001408438.1:c.81-12del		intron variant
NM_001408439.1:c.81-12del		intron variant
NM_001408440.1:c.81-12del		intron variant
NM_001408441.1:c.81-12del		intron variant
NM_001408442.1:c.81-12del		intron variant
NM_001408443.1:c.81-12del		intron variant
NM_001408444.1:c.81-12del		intron variant
NM_001408445.1:c.81-12del		intron variant
NM_001408446.1:c.81-12del		intron variant
NM_001408447.1:c.81-12del		intron variant
NM_001408448.1:c.81-12del		intron variant
NM_001408450.1:c.81-12del		intron variant
NM_001408451.1:c.80+8226del		intron variant
NM_001408452.1:c.-61-12del		intron variant
NM_001408453.1:c.-61-12del		intron variant
NM_001408454.1:c.-8+8226del		intron variant
NM_001408455.1:c.-177-12del		intron variant
NM_001408456.1:c.-177-12del		intron variant
NM_001408457.1:c.-7-9258del		intron variant
NM_001408458.1:c.-61-12del		intron variant
NM_001408459.1:c.-8+8226del		intron variant
NM_001408460.1:c.-8+8226del		intron variant
NM_001408461.1:c.-8+8226del		intron variant
NM_001408462.1:c.-61-12del		intron variant
NM_001408463.1:c.-61-12del		intron variant
NM_001408464.1:c.-8+8226del		intron variant
NM_001408465.1:c.-181-12del		intron variant
NM_001408466.1:c.-61-12del		intron variant
NM_001408467.1:c.-8+8226del		intron variant
NM_001408468.1:c.-177-12del		intron variant
NM_001408469.1:c.-61-12del		intron variant
NM_001408470.1:c.-61-12del		intron variant
NM_001408472.1:c.81-12del		intron variant
NM_001408473.1:c.81-12del		intron variant
NM_001408474.1:c.81-12del		intron variant
NM_001408475.1:c.81-12del		intron variant
NM_001408476.1:c.81-12del		intron variant
NM_001408478.1:c.-108-12del		intron variant
NM_001408479.1:c.-108-12del		intron variant
NM_001408480.1:c.-108-12del		intron variant
NM_001408481.1:c.-108-12del		intron variant
NM_001408482.1:c.-108-12del		intron variant
NM_001408483.1:c.-108-12del		intron variant
NM_001408484.1:c.-108-12del		intron variant
NM_001408485.1:c.-108-12del		intron variant
NM_001408489.1:c.-108-12del		intron variant
NM_001408490.1:c.-108-12del		intron variant
NM_001408491.1:c.-108-12del		intron variant
NM_001408492.1:c.-224-12del		intron variant
NM_001408493.1:c.-108-12del		intron variant
NM_001408494.1:c.81-12del		intron variant
NM_001408495.1:c.81-12del		intron variant
NM_001408496.1:c.-8+8226del		intron variant
NM_001408497.1:c.-61-12del		intron variant
NM_001408498.1:c.-8+8226del		intron variant
NM_001408499.1:c.-61-12del		intron variant
NM_001408500.1:c.-61-12del		intron variant
NM_001408501.1:c.-177-12del		intron variant
NM_001408502.1:c.-108-12del		intron variant
NM_001408503.1:c.-61-12del		intron variant
NM_001408504.1:c.-61-12del		intron variant
NM_001408505.1:c.-61-12del		intron variant
NM_001408506.1:c.-108-12del		intron variant
NM_001408507.1:c.-108-12del		intron variant
NM_001408508.1:c.-108-12del		intron variant
NM_001408509.1:c.-108-12del		intron variant
NM_001408510.1:c.-223-12del		intron variant
NM_001408511.1:c.-7-9258del		intron variant
NM_001408512.1:c.-223-12del		intron variant
NM_001408513.1:c.-108-12del		intron variant
NM_001408514.1:c.-108-12del		intron variant
NM_007294.3:c.81-12delC
NM_007297.4:c.-8+8226del		intron variant
NM_007298.4:c.81-12del		intron variant
NM_007299.4:c.81-12del		intron variant
NM_007300.4:c.81-12del		intron variant
NC_000017.11:g.43115797del
NC_000017.10:g.41267814del
NG_005905.2:g.102193del
LRG_292:g.102193del
LRG_292t1:c.81-12del
U14680.1:n.200-12delC

... more HGVS ... less HGVS

Protein change

Other names

IVS2-12delC

Canonical SPDI

NC_000017.11:43115790:GGGGGGG:GGGGGG

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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

Breast Cancer Information Core (BIC) (BRCA1): 200-12&base_change=del C ClinGen: CA003899 dbSNP: rs273902789 VarSome

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
Gene	OMIM	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.
Hereditary breast ovarian cancer syndrome	Benign (1)	criteria provided, single submitter	Dec 25, 2023	RCV000119235.13
Breast-ovarian cancer, familial, susceptibility to, 1	Conflicting interpretations of pathogenicity (2)	no assertion criteria provided	Feb 2, 2010	RCV000077184.9
not specified	Likely benign (2)	criteria provided, multiple submitters, no conflicts	Aug 15, 2023	RCV000482799.7
Hereditary cancer-predisposing syndrome	Likely benign (1)	criteria provided, single submitter	Oct 3, 2018	RCV000775199.4

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.
Likely benign (Sep 22, 2015)	criteria provided, single submitter (GeneDx Variant Classification (06012015)) Method: clinical testing	not specified Affected status: yes Allele origin: germline	GeneDx Accession: SCV000565786.4 First in ClinVar: Apr 29, 2017 Last updated: Apr 29, 2017	Comment: This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more) This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
Likely benign (Oct 03, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Color Diagnostics, LLC DBA Color Health Accession: SCV000909425.1 First in ClinVar: May 20, 2019 Last updated: May 20, 2019
Likely benign (Aug 15, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital Accession: SCV002551075.4 First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023
Benign (Dec 25, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Hereditary breast ovarian cancer syndrome Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000153980.9 First in ClinVar: Jun 03, 2014 Last updated: Feb 20, 2024
Uncertain significance (Feb 20, 2004)	no assertion criteria provided Method: clinical testing	Breast-ovarian cancer, familial 1 Affected status: yes Allele origin: germline	Breast Cancer Information Core (BIC) (BRCA1) Accession: SCV000144219.1 First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014	Number of individuals with the variant: 1 Ethnicity/Population group: Western European
Likely benign (Feb 02, 2010)	no assertion criteria provided Method: clinical testing	Breast-ovarian cancer, familial 1 Affected status: not provided Allele origin: germline	Sharing Clinical Reports Project (SCRP) Accession: SCV000108981.2 First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014

Comment:

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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:

Citations for germline classification of this variant

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 rs273902789 ...

These 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 Oct 08, 2024

ClinVar Genomic variation as it relates to human health

NM_007294.4(BRCA1):c.81-12del

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs273902789 ...