VCV000823090.7 - ClinVar

NM_007294.4(BRCA1):c.91A>G (p.Ile31Val)

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.

(3)

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.

Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)

criteria provided, conflicting classifications

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_007294.4(BRCA1):c.91A>G (p.Ile31Val)

Variation ID: 823090 Accession: VCV000823090.7

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 17q21.31 17: 43115769 (GRCh38) [ NCBI UCSC ] 17: 41267786 (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	Mar 16, 2020	Aug 18, 2024	May 3, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_007294.4:c.91A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_009225.1:p.Ile31Val	missense
NM_001407571.1:c.-98A>G
NM_001407581.1:c.91A>G	NP_001394510.1:p.Ile31Val	missense
NM_001407582.1:c.91A>G	NP_001394511.1:p.Ile31Val	missense
NM_001407583.1:c.91A>G	NP_001394512.1:p.Ile31Val	missense
NM_001407585.1:c.91A>G	NP_001394514.1:p.Ile31Val	missense
NM_001407587.1:c.91A>G	NP_001394516.1:p.Ile31Val	missense
NM_001407590.1:c.91A>G	NP_001394519.1:p.Ile31Val	missense
NM_001407591.1:c.91A>G	NP_001394520.1:p.Ile31Val	missense
NM_001407593.1:c.91A>G	NP_001394522.1:p.Ile31Val	missense
NM_001407594.1:c.91A>G	NP_001394523.1:p.Ile31Val	missense
NM_001407596.1:c.91A>G	NP_001394525.1:p.Ile31Val	missense
NM_001407597.1:c.91A>G	NP_001394526.1:p.Ile31Val	missense
NM_001407598.1:c.91A>G	NP_001394527.1:p.Ile31Val	missense
NM_001407602.1:c.91A>G	NP_001394531.1:p.Ile31Val	missense
NM_001407603.1:c.91A>G	NP_001394532.1:p.Ile31Val	missense
NM_001407605.1:c.91A>G	NP_001394534.1:p.Ile31Val	missense
NM_001407610.1:c.91A>G	NP_001394539.1:p.Ile31Val	missense
NM_001407611.1:c.91A>G	NP_001394540.1:p.Ile31Val	missense
NM_001407612.1:c.91A>G	NP_001394541.1:p.Ile31Val	missense
NM_001407613.1:c.91A>G	NP_001394542.1:p.Ile31Val	missense
NM_001407614.1:c.91A>G	NP_001394543.1:p.Ile31Val	missense
NM_001407615.1:c.91A>G	NP_001394544.1:p.Ile31Val	missense
NM_001407616.1:c.91A>G	NP_001394545.1:p.Ile31Val	missense
NM_001407617.1:c.91A>G	NP_001394546.1:p.Ile31Val	missense
NM_001407618.1:c.91A>G	NP_001394547.1:p.Ile31Val	missense
NM_001407619.1:c.91A>G	NP_001394548.1:p.Ile31Val	missense
NM_001407620.1:c.91A>G	NP_001394549.1:p.Ile31Val	missense
NM_001407621.1:c.91A>G	NP_001394550.1:p.Ile31Val	missense
NM_001407622.1:c.91A>G	NP_001394551.1:p.Ile31Val	missense
NM_001407623.1:c.91A>G	NP_001394552.1:p.Ile31Val	missense
NM_001407624.1:c.91A>G	NP_001394553.1:p.Ile31Val	missense
NM_001407625.1:c.91A>G	NP_001394554.1:p.Ile31Val	missense
NM_001407626.1:c.91A>G	NP_001394555.1:p.Ile31Val	missense
NM_001407627.1:c.91A>G	NP_001394556.1:p.Ile31Val	missense
NM_001407628.1:c.91A>G	NP_001394557.1:p.Ile31Val	missense
NM_001407629.1:c.91A>G	NP_001394558.1:p.Ile31Val	missense
NM_001407630.1:c.91A>G	NP_001394559.1:p.Ile31Val	missense
NM_001407631.1:c.91A>G	NP_001394560.1:p.Ile31Val	missense
NM_001407632.1:c.91A>G	NP_001394561.1:p.Ile31Val	missense
NM_001407633.1:c.91A>G	NP_001394562.1:p.Ile31Val	missense
NM_001407634.1:c.91A>G	NP_001394563.1:p.Ile31Val	missense
NM_001407635.1:c.91A>G	NP_001394564.1:p.Ile31Val	missense
NM_001407636.1:c.91A>G	NP_001394565.1:p.Ile31Val	missense
NM_001407637.1:c.91A>G	NP_001394566.1:p.Ile31Val	missense
NM_001407638.1:c.91A>G	NP_001394567.1:p.Ile31Val	missense
NM_001407639.1:c.91A>G	NP_001394568.1:p.Ile31Val	missense
NM_001407640.1:c.91A>G	NP_001394569.1:p.Ile31Val	missense
NM_001407641.1:c.91A>G	NP_001394570.1:p.Ile31Val	missense
NM_001407642.1:c.91A>G	NP_001394571.1:p.Ile31Val	missense
NM_001407644.1:c.91A>G	NP_001394573.1:p.Ile31Val	missense
NM_001407645.1:c.91A>G	NP_001394574.1:p.Ile31Val	missense
NM_001407646.1:c.91A>G	NP_001394575.1:p.Ile31Val	missense
NM_001407647.1:c.91A>G	NP_001394576.1:p.Ile31Val	missense
NM_001407648.1:c.91A>G	NP_001394577.1:p.Ile31Val	missense
NM_001407649.1:c.91A>G	NP_001394578.1:p.Ile31Val	missense
NM_001407652.1:c.91A>G	NP_001394581.1:p.Ile31Val	missense
NM_001407653.1:c.91A>G	NP_001394582.1:p.Ile31Val	missense
NM_001407654.1:c.91A>G	NP_001394583.1:p.Ile31Val	missense
NM_001407655.1:c.91A>G	NP_001394584.1:p.Ile31Val	missense
NM_001407656.1:c.91A>G	NP_001394585.1:p.Ile31Val	missense
NM_001407657.1:c.91A>G	NP_001394586.1:p.Ile31Val	missense
NM_001407658.1:c.91A>G	NP_001394587.1:p.Ile31Val	missense
NM_001407659.1:c.91A>G	NP_001394588.1:p.Ile31Val	missense
NM_001407660.1:c.91A>G	NP_001394589.1:p.Ile31Val	missense
NM_001407661.1:c.91A>G	NP_001394590.1:p.Ile31Val	missense
NM_001407662.1:c.91A>G	NP_001394591.1:p.Ile31Val	missense
NM_001407663.1:c.91A>G	NP_001394592.1:p.Ile31Val	missense
NM_001407664.1:c.91A>G	NP_001394593.1:p.Ile31Val	missense
NM_001407665.1:c.91A>G	NP_001394594.1:p.Ile31Val	missense
NM_001407666.1:c.91A>G	NP_001394595.1:p.Ile31Val	missense
NM_001407667.1:c.91A>G	NP_001394596.1:p.Ile31Val	missense
NM_001407668.1:c.91A>G	NP_001394597.1:p.Ile31Val	missense
NM_001407669.1:c.91A>G	NP_001394598.1:p.Ile31Val	missense
NM_001407670.1:c.91A>G	NP_001394599.1:p.Ile31Val	missense
NM_001407671.1:c.91A>G	NP_001394600.1:p.Ile31Val	missense
NM_001407672.1:c.91A>G	NP_001394601.1:p.Ile31Val	missense
NM_001407673.1:c.91A>G	NP_001394602.1:p.Ile31Val	missense
NM_001407674.1:c.91A>G	NP_001394603.1:p.Ile31Val	missense
NM_001407675.1:c.91A>G	NP_001394604.1:p.Ile31Val	missense
NM_001407676.1:c.91A>G	NP_001394605.1:p.Ile31Val	missense
NM_001407677.1:c.91A>G	NP_001394606.1:p.Ile31Val	missense
NM_001407678.1:c.91A>G	NP_001394607.1:p.Ile31Val	missense
NM_001407679.1:c.91A>G	NP_001394608.1:p.Ile31Val	missense
NM_001407680.1:c.91A>G	NP_001394609.1:p.Ile31Val	missense
NM_001407681.1:c.91A>G	NP_001394610.1:p.Ile31Val	missense
NM_001407682.1:c.91A>G	NP_001394611.1:p.Ile31Val	missense
NM_001407683.1:c.91A>G	NP_001394612.1:p.Ile31Val	missense
NM_001407684.1:c.91A>G	NP_001394613.1:p.Ile31Val	missense
NM_001407685.1:c.91A>G	NP_001394614.1:p.Ile31Val	missense
NM_001407686.1:c.91A>G	NP_001394615.1:p.Ile31Val	missense
NM_001407687.1:c.91A>G	NP_001394616.1:p.Ile31Val	missense
NM_001407688.1:c.91A>G	NP_001394617.1:p.Ile31Val	missense
NM_001407689.1:c.91A>G	NP_001394618.1:p.Ile31Val	missense
NM_001407690.1:c.91A>G	NP_001394619.1:p.Ile31Val	missense
NM_001407691.1:c.91A>G	NP_001394620.1:p.Ile31Val	missense
NM_001407694.1:c.-167A>G
NM_001407695.1:c.-171A>G
NM_001407696.1:c.-167A>G
NM_001407697.1:c.-51A>G
NM_001407724.1:c.-167A>G
NM_001407725.1:c.-51A>G
NM_001407727.1:c.-167A>G
NM_001407728.1:c.-51A>G
NM_001407729.1:c.-51A>G
NM_001407730.1:c.-51A>G
NM_001407731.1:c.-167A>G
NM_001407733.1:c.-167A>G
NM_001407734.1:c.-51A>G
NM_001407735.1:c.-51A>G
NM_001407737.1:c.-51A>G
NM_001407739.1:c.-51A>G
NM_001407740.1:c.-51A>G
NM_001407741.1:c.-51A>G
NM_001407743.1:c.-51A>G
NM_001407745.1:c.-51A>G
NM_001407746.1:c.-167A>G
NM_001407748.1:c.-51A>G
NM_001407749.1:c.-167A>G
NM_001407752.1:c.-51A>G
NM_001407838.1:c.-51A>G
NM_001407839.1:c.-51A>G
NM_001407841.1:c.-47A>G
NM_001407842.1:c.-167A>G
NM_001407843.1:c.-167A>G
NM_001407844.1:c.-51A>G
NM_001407846.1:c.-51A>G
NM_001407847.1:c.-51A>G
NM_001407848.1:c.-51A>G
NM_001407850.1:c.-51A>G
NM_001407851.1:c.-51A>G
NM_001407853.1:c.-98A>G
NM_001407854.1:c.91A>G	NP_001394783.1:p.Ile31Val	missense
NM_001407858.1:c.91A>G	NP_001394787.1:p.Ile31Val	missense
NM_001407859.1:c.91A>G	NP_001394788.1:p.Ile31Val	missense
NM_001407860.1:c.91A>G	NP_001394789.1:p.Ile31Val	missense
NM_001407861.1:c.91A>G	NP_001394790.1:p.Ile31Val	missense
NM_001407862.1:c.91A>G	NP_001394791.1:p.Ile31Val	missense
NM_001407863.1:c.91A>G	NP_001394792.1:p.Ile31Val	missense
NM_001407874.1:c.91A>G	NP_001394803.1:p.Ile31Val	missense
NM_001407875.1:c.91A>G	NP_001394804.1:p.Ile31Val	missense
NM_001407879.1:c.-98A>G
NM_001407882.1:c.-98A>G
NM_001407884.1:c.-98A>G
NM_001407885.1:c.-98A>G
NM_001407886.1:c.-98A>G
NM_001407887.1:c.-98A>G
NM_001407889.1:c.-214A>G
NM_001407894.1:c.-98A>G
NM_001407895.1:c.-98A>G
NM_001407896.1:c.-98A>G
NM_001407897.1:c.-98A>G
NM_001407899.1:c.-98A>G
NM_001407900.1:c.-214A>G
NM_001407904.1:c.-98A>G
NM_001407906.1:c.-98A>G
NM_001407907.1:c.-98A>G
NM_001407908.1:c.-98A>G
NM_001407909.1:c.-98A>G
NM_001407910.1:c.-98A>G
NM_001407915.1:c.-98A>G
NM_001407916.1:c.-98A>G
NM_001407917.1:c.-98A>G
NM_001407918.1:c.-98A>G
NM_001407919.1:c.91A>G	NP_001394848.1:p.Ile31Val	missense
NM_001407920.1:c.-51A>G
NM_001407921.1:c.-51A>G
NM_001407922.1:c.-51A>G
NM_001407923.1:c.-51A>G
NM_001407926.1:c.-51A>G
NM_001407927.1:c.-51A>G
NM_001407930.1:c.-167A>G
NM_001407933.1:c.-51A>G
NM_001407934.1:c.-51A>G
NM_001407935.1:c.-51A>G
NM_001407937.1:c.91A>G	NP_001394866.1:p.Ile31Val	missense
NM_001407938.1:c.91A>G	NP_001394867.1:p.Ile31Val	missense
NM_001407939.1:c.91A>G	NP_001394868.1:p.Ile31Val	missense
NM_001407940.1:c.91A>G	NP_001394869.1:p.Ile31Val	missense
NM_001407941.1:c.91A>G	NP_001394870.1:p.Ile31Val	missense
NM_001407942.1:c.-167A>G
NM_001407943.1:c.-51A>G
NM_001407944.1:c.-51A>G
NM_001407946.1:c.-98A>G
NM_001407947.1:c.-98A>G
NM_001407948.1:c.-98A>G
NM_001407949.1:c.-98A>G
NM_001407950.1:c.-98A>G
NM_001407951.1:c.-98A>G
NM_001407952.1:c.-98A>G
NM_001407953.1:c.-98A>G
NM_001407954.1:c.-98A>G
NM_001407955.1:c.-98A>G
NM_001407956.1:c.-98A>G
NM_001407957.1:c.-98A>G
NM_001407958.1:c.-98A>G
NM_001407960.1:c.-213A>G
NM_001407962.1:c.-213A>G
NM_001407964.1:c.-51A>G
NM_001407965.1:c.-329A>G
NM_001407968.1:c.91A>G	NP_001394897.1:p.Ile31Val	missense
NM_001407969.1:c.91A>G	NP_001394898.1:p.Ile31Val	missense
NM_001407970.1:c.91A>G	NP_001394899.1:p.Ile31Val	missense
NM_001407971.1:c.91A>G	NP_001394900.1:p.Ile31Val	missense
NM_001407972.1:c.91A>G	NP_001394901.1:p.Ile31Val	missense
NM_001407973.1:c.91A>G	NP_001394902.1:p.Ile31Val	missense
NM_001407974.1:c.91A>G	NP_001394903.1:p.Ile31Val	missense
NM_001407975.1:c.91A>G	NP_001394904.1:p.Ile31Val	missense
NM_001407976.1:c.91A>G	NP_001394905.1:p.Ile31Val	missense
NM_001407977.1:c.91A>G	NP_001394906.1:p.Ile31Val	missense
NM_001407978.1:c.91A>G	NP_001394907.1:p.Ile31Val	missense
NM_001407979.1:c.91A>G	NP_001394908.1:p.Ile31Val	missense
NM_001407980.1:c.91A>G	NP_001394909.1:p.Ile31Val	missense
NM_001407981.1:c.91A>G	NP_001394910.1:p.Ile31Val	missense
NM_001407982.1:c.91A>G	NP_001394911.1:p.Ile31Val	missense
NM_001407983.1:c.91A>G	NP_001394912.1:p.Ile31Val	missense
NM_001407984.1:c.91A>G	NP_001394913.1:p.Ile31Val	missense
NM_001407985.1:c.91A>G	NP_001394914.1:p.Ile31Val	missense
NM_001407986.1:c.91A>G	NP_001394915.1:p.Ile31Val	missense
NM_001407990.1:c.91A>G	NP_001394919.1:p.Ile31Val	missense
NM_001407991.1:c.91A>G	NP_001394920.1:p.Ile31Val	missense
NM_001407992.1:c.91A>G	NP_001394921.1:p.Ile31Val	missense
NM_001407993.1:c.91A>G	NP_001394922.1:p.Ile31Val	missense
NM_001408392.1:c.91A>G	NP_001395321.1:p.Ile31Val	missense
NM_001408396.1:c.91A>G	NP_001395325.1:p.Ile31Val	missense
NM_001408397.1:c.91A>G	NP_001395326.1:p.Ile31Val	missense
NM_001408398.1:c.91A>G	NP_001395327.1:p.Ile31Val	missense
NM_001408399.1:c.91A>G	NP_001395328.1:p.Ile31Val	missense
NM_001408400.1:c.91A>G	NP_001395329.1:p.Ile31Val	missense
NM_001408401.1:c.91A>G	NP_001395330.1:p.Ile31Val	missense
NM_001408402.1:c.91A>G	NP_001395331.1:p.Ile31Val	missense
NM_001408403.1:c.91A>G	NP_001395332.1:p.Ile31Val	missense
NM_001408404.1:c.91A>G	NP_001395333.1:p.Ile31Val	missense
NM_001408406.1:c.91A>G	NP_001395335.1:p.Ile31Val	missense
NM_001408407.1:c.91A>G	NP_001395336.1:p.Ile31Val	missense
NM_001408408.1:c.91A>G	NP_001395337.1:p.Ile31Val	missense
NM_001408409.1:c.91A>G	NP_001395338.1:p.Ile31Val	missense
NM_001408410.1:c.-51A>G
NM_001408411.1:c.91A>G	NP_001395340.1:p.Ile31Val	missense
NM_001408412.1:c.91A>G	NP_001395341.1:p.Ile31Val	missense
NM_001408413.1:c.91A>G	NP_001395342.1:p.Ile31Val	missense
NM_001408414.1:c.91A>G	NP_001395343.1:p.Ile31Val	missense
NM_001408415.1:c.91A>G	NP_001395344.1:p.Ile31Val	missense
NM_001408416.1:c.91A>G	NP_001395345.1:p.Ile31Val	missense
NM_001408418.1:c.91A>G	NP_001395347.1:p.Ile31Val	missense
NM_001408419.1:c.91A>G	NP_001395348.1:p.Ile31Val	missense
NM_001408420.1:c.91A>G	NP_001395349.1:p.Ile31Val	missense
NM_001408421.1:c.91A>G	NP_001395350.1:p.Ile31Val	missense
NM_001408422.1:c.91A>G	NP_001395351.1:p.Ile31Val	missense
NM_001408423.1:c.91A>G	NP_001395352.1:p.Ile31Val	missense
NM_001408424.1:c.91A>G	NP_001395353.1:p.Ile31Val	missense
NM_001408425.1:c.91A>G	NP_001395354.1:p.Ile31Val	missense
NM_001408426.1:c.91A>G	NP_001395355.1:p.Ile31Val	missense
NM_001408427.1:c.91A>G	NP_001395356.1:p.Ile31Val	missense
NM_001408428.1:c.91A>G	NP_001395357.1:p.Ile31Val	missense
NM_001408429.1:c.91A>G	NP_001395358.1:p.Ile31Val	missense
NM_001408430.1:c.91A>G	NP_001395359.1:p.Ile31Val	missense
NM_001408431.1:c.91A>G	NP_001395360.1:p.Ile31Val	missense
NM_001408432.1:c.91A>G	NP_001395361.1:p.Ile31Val	missense
NM_001408433.1:c.91A>G	NP_001395362.1:p.Ile31Val	missense
NM_001408434.1:c.91A>G	NP_001395363.1:p.Ile31Val	missense
NM_001408435.1:c.91A>G	NP_001395364.1:p.Ile31Val	missense
NM_001408436.1:c.91A>G	NP_001395365.1:p.Ile31Val	missense
NM_001408437.1:c.91A>G	NP_001395366.1:p.Ile31Val	missense
NM_001408438.1:c.91A>G	NP_001395367.1:p.Ile31Val	missense
NM_001408439.1:c.91A>G	NP_001395368.1:p.Ile31Val	missense
NM_001408440.1:c.91A>G	NP_001395369.1:p.Ile31Val	missense
NM_001408441.1:c.91A>G	NP_001395370.1:p.Ile31Val	missense
NM_001408442.1:c.91A>G	NP_001395371.1:p.Ile31Val	missense
NM_001408443.1:c.91A>G	NP_001395372.1:p.Ile31Val	missense
NM_001408444.1:c.91A>G	NP_001395373.1:p.Ile31Val	missense
NM_001408445.1:c.91A>G	NP_001395374.1:p.Ile31Val	missense
NM_001408446.1:c.91A>G	NP_001395375.1:p.Ile31Val	missense
NM_001408447.1:c.91A>G	NP_001395376.1:p.Ile31Val	missense
NM_001408448.1:c.91A>G	NP_001395377.1:p.Ile31Val	missense
NM_001408450.1:c.91A>G	NP_001395379.1:p.Ile31Val	missense
NM_001408452.1:c.-51A>G
NM_001408453.1:c.-51A>G
NM_001408455.1:c.-167A>G
NM_001408456.1:c.-167A>G
NM_001408458.1:c.-51A>G
NM_001408462.1:c.-51A>G
NM_001408463.1:c.-51A>G
NM_001408465.1:c.-171A>G
NM_001408466.1:c.-51A>G
NM_001408468.1:c.-167A>G
NM_001408469.1:c.-51A>G
NM_001408470.1:c.-51A>G
NM_001408472.1:c.91A>G	NP_001395401.1:p.Ile31Val	missense
NM_001408473.1:c.91A>G	NP_001395402.1:p.Ile31Val	missense
NM_001408474.1:c.91A>G	NP_001395403.1:p.Ile31Val	missense
NM_001408475.1:c.91A>G	NP_001395404.1:p.Ile31Val	missense
NM_001408476.1:c.91A>G	NP_001395405.1:p.Ile31Val	missense
NM_001408478.1:c.-98A>G
NM_001408479.1:c.-98A>G
NM_001408480.1:c.-98A>G
NM_001408481.1:c.-98A>G
NM_001408482.1:c.-98A>G
NM_001408483.1:c.-98A>G
NM_001408484.1:c.-98A>G
NM_001408485.1:c.-98A>G
NM_001408489.1:c.-98A>G
NM_001408490.1:c.-98A>G
NM_001408491.1:c.-98A>G
NM_001408492.1:c.-214A>G
NM_001408493.1:c.-98A>G
NM_001408494.1:c.91A>G	NP_001395423.1:p.Ile31Val	missense
NM_001408495.1:c.91A>G	NP_001395424.1:p.Ile31Val	missense
NM_001408497.1:c.-51A>G
NM_001408499.1:c.-51A>G
NM_001408500.1:c.-51A>G
NM_001408501.1:c.-167A>G
NM_001408502.1:c.-98A>G
NM_001408503.1:c.-51A>G
NM_001408504.1:c.-51A>G
NM_001408505.1:c.-51A>G
NM_001408506.1:c.-98A>G
NM_001408507.1:c.-98A>G
NM_001408508.1:c.-98A>G
NM_001408509.1:c.-98A>G
NM_001408510.1:c.-213A>G
NM_001408512.1:c.-213A>G
NM_001408513.1:c.-98A>G
NM_001408514.1:c.-98A>G
NM_007297.4:c.-8+8248A>G		intron variant
NM_007298.4:c.91A>G	NP_009229.2:p.Ile31Val	missense
NM_007299.4:c.91A>G	NP_009230.2:p.Ile31Val	missense
NM_007300.4:c.91A>G	NP_009231.2:p.Ile31Val	missense
NM_007304.2:c.91A>G	NP_009235.2:p.Ile31Val	missense
NR_027676.2:n.293A>G		non-coding transcript variant
NC_000017.11:g.43115769T>C
NC_000017.10:g.41267786T>C
NG_005905.2:g.102215A>G
LRG_292:g.102215A>G
LRG_292t1:c.91A>G	LRG_292p1:p.Ile31Val

... more HGVS ... less HGVS

Protein change

I31V

Other names

Canonical SPDI

NC_000017.11:43115768:T:C

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

functionally_normal; Sequence Ontology [ SO:0002219]

The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.91A>G, a MISSENSE variant, produced a function score of 0.17, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: â€˜functionalâ€™, score > -0.748; â€˜intermediateâ€™, -0.748 > score > -1.328; â€˜non-functionalâ€™, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]

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

dbSNP: rs1597912041 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 cancer-predisposing syndrome	Uncertain significance (1)	criteria provided, single submitter	May 22, 2019	RCV001018996.4
Breast-ovarian cancer, familial, susceptibility to, 1	not provided (1)	no classification provided	-	RCV001076169.3
Hereditary breast ovarian cancer syndrome	Likely benign (1)	criteria provided, single submitter	May 3, 2024	RCV004693442.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Uncertain significance (May 22, 2019)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV001180296.4 First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024	Comment: The p.I31V variant (also known as c.91A>G), located in coding exon 2 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more) The p.I31V variant (also known as c.91A>G), located in coding exon 2 of the BRCA1 gene, results from an A to G substitution at nucleotide position 91. The isoleucine at codon 31 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
Likely benign (May 03, 2024)	criteria provided, single submitter (ClinGen BRCA1 V1.0.0) Method: curation	Hereditary breast ovarian cancer syndrome Affected status: not provided Allele origin: germline	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne Accession: SCV005196407.1 First in ClinVar: Aug 18, 2024 Last updated: Aug 18, 2024	Comment: According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose these criteria: PM2 (supporting pathogenic): absent from gnomAD, BP4 (supporting benign): BayesDel no-AF score ≤ … (more) According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose these criteria: PM2 (supporting pathogenic): absent from gnomAD, BP4 (supporting benign): BayesDel no-AF score ≤ 0.15 AND SpliceAI ≤0.1, BS3 (strong benign): Findlay et al. 2018, functional (BS3 met) (less)
not provided (-)	no classification provided Method: in vitro	Breast-ovarian cancer, familial 1 Affected status: not applicable Allele origin: not applicable	Brotman Baty Institute, University of Washington Accession: SCV001241867.1 First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020	Publications: PubMed (1) PubMed: 30209399 Other databases https://sge.gs.washington.edu/BR… https://sge.gs.washington.edu/BRCA1/ Method: saturation genome editing in haploid cells Result: FUNCTIONAL:0.171253179516736

Comment:

The p.I31V variant (also known as c.91A>G), located in coding exon 2 of the BRCA1 gene, results from an A to G substitution at nucleotide position 91. The isoleucine at codon 31 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

Comment:

According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose these criteria: PM2 (supporting pathogenic): absent from gnomAD, BP4 (supporting benign): BayesDel no-AF score ≤ 0.15 AND SpliceAI ≤0.1, BS3 (strong benign): Findlay et al. 2018, functional (BS3 met)

Germline Functional Evidence

Functional Help The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence	Method Help A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter.	Result Help A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
functionally_normal (SO:0002219)	saturation genome editing in haploid cells Method citation(s): PubMed(1)	FUNCTIONAL:0.171253179516736	Brotman Baty Institute, University of Washington Accession: SCV001241867.1	Publications PubMed (1) Other databases https://sge.gs.washington.edu/BR… Comment: The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.91A>G, a MISSENSE variant, produced a function score of 0.17, corresponding to a functional classification of FUNCTIONAL. … (more) The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.91A>G, a MISSENSE variant, produced a function score of 0.17, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: â€˜functionalâ€™, score > -0.748; â€˜intermediateâ€™, -0.748 > score > -1.328; â€˜non-functionalâ€™, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Accurate classification of BRCA1 variants with saturation genome editing.	Findlay GM	Nature	2018	PMID: 30209399
https://sge.gs.washington.edu/BRCA1/	-	-	-	-

Text-mined citations for rs1597912041 ...

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.91A>G (p.Ile31Val)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs1597912041 ...