NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) AND not provided

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Aug 1, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000258961.28

Allele description [Variation Report for NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)]

NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)

Other names:

p.E1221*:GAA>TAA

HGVS:

NC_000017.11:g.43091870C>A
NG_005905.2:g.126114G>T
NG_087068.1:g.852C>A
NM_001407571.1:c.3448G>T
NM_001407581.1:c.3661G>T
NM_001407582.1:c.3661G>T
NM_001407583.1:c.3661G>T
NM_001407585.1:c.3661G>T
NM_001407587.1:c.3658G>T
NM_001407590.1:c.3658G>T
NM_001407591.1:c.3658G>T
NM_001407593.1:c.3661G>T
NM_001407594.1:c.3661G>T
NM_001407596.1:c.3661G>T
NM_001407597.1:c.3661G>T
NM_001407598.1:c.3661G>T
NM_001407602.1:c.3661G>T
NM_001407603.1:c.3661G>T
NM_001407605.1:c.3661G>T
NM_001407610.1:c.3658G>T
NM_001407611.1:c.3658G>T
NM_001407612.1:c.3658G>T
NM_001407613.1:c.3658G>T
NM_001407614.1:c.3658G>T
NM_001407615.1:c.3658G>T
NM_001407616.1:c.3661G>T
NM_001407617.1:c.3661G>T
NM_001407618.1:c.3661G>T
NM_001407619.1:c.3661G>T
NM_001407620.1:c.3661G>T
NM_001407621.1:c.3661G>T
NM_001407622.1:c.3661G>T
NM_001407623.1:c.3661G>T
NM_001407624.1:c.3661G>T
NM_001407625.1:c.3661G>T
NM_001407626.1:c.3661G>T
NM_001407627.1:c.3658G>T
NM_001407628.1:c.3658G>T
NM_001407629.1:c.3658G>T
NM_001407630.1:c.3658G>T
NM_001407631.1:c.3658G>T
NM_001407632.1:c.3658G>T
NM_001407633.1:c.3658G>T
NM_001407634.1:c.3658G>T
NM_001407635.1:c.3658G>T
NM_001407636.1:c.3658G>T
NM_001407637.1:c.3658G>T
NM_001407638.1:c.3658G>T
NM_001407639.1:c.3661G>T
NM_001407640.1:c.3661G>T
NM_001407641.1:c.3661G>T
NM_001407642.1:c.3661G>T
NM_001407644.1:c.3658G>T
NM_001407645.1:c.3658G>T
NM_001407646.1:c.3652G>T
NM_001407647.1:c.3652G>T
NM_001407648.1:c.3538G>T
NM_001407649.1:c.3535G>T
NM_001407652.1:c.3661G>T
NM_001407653.1:c.3583G>T
NM_001407654.1:c.3583G>T
NM_001407655.1:c.3583G>T
NM_001407656.1:c.3583G>T
NM_001407657.1:c.3583G>T
NM_001407658.1:c.3583G>T
NM_001407659.1:c.3580G>T
NM_001407660.1:c.3580G>T
NM_001407661.1:c.3580G>T
NM_001407662.1:c.3580G>T
NM_001407663.1:c.3583G>T
NM_001407664.1:c.3538G>T
NM_001407665.1:c.3538G>T
NM_001407666.1:c.3538G>T
NM_001407667.1:c.3538G>T
NM_001407668.1:c.3538G>T
NM_001407669.1:c.3538G>T
NM_001407670.1:c.3535G>T
NM_001407671.1:c.3535G>T
NM_001407672.1:c.3535G>T
NM_001407673.1:c.3535G>T
NM_001407674.1:c.3538G>T
NM_001407675.1:c.3538G>T
NM_001407676.1:c.3538G>T
NM_001407677.1:c.3538G>T
NM_001407678.1:c.3538G>T
NM_001407679.1:c.3538G>T
NM_001407680.1:c.3538G>T
NM_001407681.1:c.3538G>T
NM_001407682.1:c.3538G>T
NM_001407683.1:c.3538G>T
NM_001407684.1:c.3661G>T
NM_001407685.1:c.3535G>T
NM_001407686.1:c.3535G>T
NM_001407687.1:c.3535G>T
NM_001407688.1:c.3535G>T
NM_001407689.1:c.3535G>T
NM_001407690.1:c.3535G>T
NM_001407691.1:c.3535G>T
NM_001407692.1:c.3520G>T
NM_001407694.1:c.3520G>T
NM_001407695.1:c.3520G>T
NM_001407696.1:c.3520G>T
NM_001407697.1:c.3520G>T
NM_001407698.1:c.3520G>T
NM_001407724.1:c.3520G>T
NM_001407725.1:c.3520G>T
NM_001407726.1:c.3520G>T
NM_001407727.1:c.3520G>T
NM_001407728.1:c.3520G>T
NM_001407729.1:c.3520G>T
NM_001407730.1:c.3520G>T
NM_001407731.1:c.3520G>T
NM_001407732.1:c.3520G>T
NM_001407733.1:c.3520G>T
NM_001407734.1:c.3520G>T
NM_001407735.1:c.3520G>T
NM_001407736.1:c.3520G>T
NM_001407737.1:c.3520G>T
NM_001407738.1:c.3520G>T
NM_001407739.1:c.3520G>T
NM_001407740.1:c.3517G>T
NM_001407741.1:c.3517G>T
NM_001407742.1:c.3517G>T
NM_001407743.1:c.3517G>T
NM_001407744.1:c.3517G>T
NM_001407745.1:c.3517G>T
NM_001407746.1:c.3517G>T
NM_001407747.1:c.3517G>T
NM_001407748.1:c.3517G>T
NM_001407749.1:c.3517G>T
NM_001407750.1:c.3520G>T
NM_001407751.1:c.3520G>T
NM_001407752.1:c.3520G>T
NM_001407838.1:c.3517G>T
NM_001407839.1:c.3517G>T
NM_001407841.1:c.3517G>T
NM_001407842.1:c.3517G>T
NM_001407843.1:c.3517G>T
NM_001407844.1:c.3517G>T
NM_001407845.1:c.3517G>T
NM_001407846.1:c.3517G>T
NM_001407847.1:c.3517G>T
NM_001407848.1:c.3517G>T
NM_001407849.1:c.3517G>T
NM_001407850.1:c.3520G>T
NM_001407851.1:c.3520G>T
NM_001407852.1:c.3520G>T
NM_001407853.1:c.3448G>T
NM_001407854.1:c.3661G>T
NM_001407858.1:c.3661G>T
NM_001407859.1:c.3661G>T
NM_001407860.1:c.3658G>T
NM_001407861.1:c.3658G>T
NM_001407862.1:c.3460G>T
NM_001407863.1:c.3538G>T
NM_001407874.1:c.3457G>T
NM_001407875.1:c.3457G>T
NM_001407879.1:c.3451G>T
NM_001407881.1:c.3451G>T
NM_001407882.1:c.3451G>T
NM_001407884.1:c.3451G>T
NM_001407885.1:c.3451G>T
NM_001407886.1:c.3451G>T
NM_001407887.1:c.3451G>T
NM_001407889.1:c.3451G>T
NM_001407894.1:c.3448G>T
NM_001407895.1:c.3448G>T
NM_001407896.1:c.3448G>T
NM_001407897.1:c.3448G>T
NM_001407898.1:c.3448G>T
NM_001407899.1:c.3448G>T
NM_001407900.1:c.3451G>T
NM_001407902.1:c.3451G>T
NM_001407904.1:c.3451G>T
NM_001407906.1:c.3451G>T
NM_001407907.1:c.3451G>T
NM_001407908.1:c.3451G>T
NM_001407909.1:c.3451G>T
NM_001407910.1:c.3451G>T
NM_001407915.1:c.3448G>T
NM_001407916.1:c.3448G>T
NM_001407917.1:c.3448G>T
NM_001407918.1:c.3448G>T
NM_001407919.1:c.3538G>T
NM_001407920.1:c.3397G>T
NM_001407921.1:c.3397G>T
NM_001407922.1:c.3397G>T
NM_001407923.1:c.3397G>T
NM_001407924.1:c.3397G>T
NM_001407925.1:c.3397G>T
NM_001407926.1:c.3397G>T
NM_001407927.1:c.3397G>T
NM_001407928.1:c.3397G>T
NM_001407929.1:c.3397G>T
NM_001407930.1:c.3394G>T
NM_001407931.1:c.3394G>T
NM_001407932.1:c.3394G>T
NM_001407933.1:c.3397G>T
NM_001407934.1:c.3394G>T
NM_001407935.1:c.3397G>T
NM_001407936.1:c.3394G>T
NM_001407937.1:c.3538G>T
NM_001407938.1:c.3538G>T
NM_001407939.1:c.3538G>T
NM_001407940.1:c.3535G>T
NM_001407941.1:c.3535G>T
NM_001407942.1:c.3520G>T
NM_001407943.1:c.3517G>T
NM_001407944.1:c.3520G>T
NM_001407945.1:c.3520G>T
NM_001407946.1:c.3328G>T
NM_001407947.1:c.3328G>T
NM_001407948.1:c.3328G>T
NM_001407949.1:c.3328G>T
NM_001407950.1:c.3328G>T
NM_001407951.1:c.3328G>T
NM_001407952.1:c.3328G>T
NM_001407953.1:c.3328G>T
NM_001407954.1:c.3325G>T
NM_001407955.1:c.3325G>T
NM_001407956.1:c.3325G>T
NM_001407957.1:c.3328G>T
NM_001407958.1:c.3325G>T
NM_001407959.1:c.3280G>T
NM_001407960.1:c.3280G>T
NM_001407962.1:c.3277G>T
NM_001407963.1:c.3280G>T
NM_001407964.1:c.3517G>T
NM_001407965.1:c.3157G>T
NM_001407966.1:c.2773G>T
NM_001407967.1:c.2773G>T
NM_001407968.1:c.1057G>T
NM_001407969.1:c.1057G>T
NM_001407970.1:c.788-838G>T
NM_001407971.1:c.788-838G>T
NM_001407972.1:c.785-838G>T
NM_001407973.1:c.788-838G>T
NM_001407974.1:c.788-838G>T
NM_001407975.1:c.788-838G>T
NM_001407976.1:c.788-838G>T
NM_001407977.1:c.788-838G>T
NM_001407978.1:c.788-838G>T
NM_001407979.1:c.788-838G>T
NM_001407980.1:c.788-838G>T
NM_001407981.1:c.788-838G>T
NM_001407982.1:c.788-838G>T
NM_001407983.1:c.788-838G>T
NM_001407984.1:c.785-838G>T
NM_001407985.1:c.785-838G>T
NM_001407986.1:c.785-838G>T
NM_001407990.1:c.788-838G>T
NM_001407991.1:c.785-838G>T
NM_001407992.1:c.785-838G>T
NM_001407993.1:c.788-838G>T
NM_001408392.1:c.785-838G>T
NM_001408396.1:c.785-838G>T
NM_001408397.1:c.785-838G>T
NM_001408398.1:c.785-838G>T
NM_001408399.1:c.785-838G>T
NM_001408400.1:c.785-838G>T
NM_001408401.1:c.785-838G>T
NM_001408402.1:c.785-838G>T
NM_001408403.1:c.788-838G>T
NM_001408404.1:c.788-838G>T
NM_001408406.1:c.791-847G>T
NM_001408407.1:c.785-838G>T
NM_001408408.1:c.779-838G>T
NM_001408409.1:c.710-838G>T
NM_001408410.1:c.647-838G>T
NM_001408411.1:c.710-838G>T
NM_001408412.1:c.710-838G>T
NM_001408413.1:c.707-838G>T
NM_001408414.1:c.710-838G>T
NM_001408415.1:c.710-838G>T
NM_001408416.1:c.707-838G>T
NM_001408418.1:c.671-838G>T
NM_001408419.1:c.671-838G>T
NM_001408420.1:c.671-838G>T
NM_001408421.1:c.668-838G>T
NM_001408422.1:c.671-838G>T
NM_001408423.1:c.671-838G>T
NM_001408424.1:c.668-838G>T
NM_001408425.1:c.665-838G>T
NM_001408426.1:c.665-838G>T
NM_001408427.1:c.665-838G>T
NM_001408428.1:c.665-838G>T
NM_001408429.1:c.665-838G>T
NM_001408430.1:c.665-838G>T
NM_001408431.1:c.668-838G>T
NM_001408432.1:c.662-838G>T
NM_001408433.1:c.662-838G>T
NM_001408434.1:c.662-838G>T
NM_001408435.1:c.662-838G>T
NM_001408436.1:c.665-838G>T
NM_001408437.1:c.665-838G>T
NM_001408438.1:c.665-838G>T
NM_001408439.1:c.665-838G>T
NM_001408440.1:c.665-838G>T
NM_001408441.1:c.665-838G>T
NM_001408442.1:c.665-838G>T
NM_001408443.1:c.665-838G>T
NM_001408444.1:c.665-838G>T
NM_001408445.1:c.662-838G>T
NM_001408446.1:c.662-838G>T
NM_001408447.1:c.662-838G>T
NM_001408448.1:c.662-838G>T
NM_001408450.1:c.662-838G>T
NM_001408451.1:c.653-838G>T
NM_001408452.1:c.647-838G>T
NM_001408453.1:c.647-838G>T
NM_001408454.1:c.647-838G>T
NM_001408455.1:c.647-838G>T
NM_001408456.1:c.647-838G>T
NM_001408457.1:c.647-838G>T
NM_001408458.1:c.647-838G>T
NM_001408459.1:c.647-838G>T
NM_001408460.1:c.647-838G>T
NM_001408461.1:c.647-838G>T
NM_001408462.1:c.644-838G>T
NM_001408463.1:c.644-838G>T
NM_001408464.1:c.644-838G>T
NM_001408465.1:c.644-838G>T
NM_001408466.1:c.647-838G>T
NM_001408467.1:c.647-838G>T
NM_001408468.1:c.644-838G>T
NM_001408469.1:c.647-838G>T
NM_001408470.1:c.644-838G>T
NM_001408472.1:c.788-838G>T
NM_001408473.1:c.785-838G>T
NM_001408474.1:c.587-838G>T
NM_001408475.1:c.584-838G>T
NM_001408476.1:c.587-838G>T
NM_001408478.1:c.578-838G>T
NM_001408479.1:c.578-838G>T
NM_001408480.1:c.578-838G>T
NM_001408481.1:c.578-838G>T
NM_001408482.1:c.578-838G>T
NM_001408483.1:c.578-838G>T
NM_001408484.1:c.578-838G>T
NM_001408485.1:c.578-838G>T
NM_001408489.1:c.578-838G>T
NM_001408490.1:c.575-838G>T
NM_001408491.1:c.575-838G>T
NM_001408492.1:c.578-838G>T
NM_001408493.1:c.575-838G>T
NM_001408494.1:c.548-838G>T
NM_001408495.1:c.545-838G>T
NM_001408496.1:c.524-838G>T
NM_001408497.1:c.524-838G>T
NM_001408498.1:c.524-838G>T
NM_001408499.1:c.524-838G>T
NM_001408500.1:c.524-838G>T
NM_001408501.1:c.524-838G>T
NM_001408502.1:c.455-838G>T
NM_001408503.1:c.521-838G>T
NM_001408504.1:c.521-838G>T
NM_001408505.1:c.521-838G>T
NM_001408506.1:c.461-838G>T
NM_001408507.1:c.461-838G>T
NM_001408508.1:c.452-838G>T
NM_001408509.1:c.452-838G>T
NM_001408510.1:c.407-838G>T
NM_001408511.1:c.404-838G>T
NM_001408512.1:c.284-838G>T
NM_001408513.1:c.578-838G>T
NM_001408514.1:c.578-838G>T
NM_007294.4:c.3661G>TMANE SELECT
NM_007297.4:c.3520G>T
NM_007298.4:c.788-838G>T
NM_007299.4:c.788-838G>T
NM_007300.4:c.3661G>T
NP_001394500.1:p.Glu1150Ter
NP_001394510.1:p.Glu1221Ter
NP_001394511.1:p.Glu1221Ter
NP_001394512.1:p.Glu1221Ter
NP_001394514.1:p.Glu1221Ter
NP_001394516.1:p.Glu1220Ter
NP_001394519.1:p.Glu1220Ter
NP_001394520.1:p.Glu1220Ter
NP_001394522.1:p.Glu1221Ter
NP_001394523.1:p.Glu1221Ter
NP_001394525.1:p.Glu1221Ter
NP_001394526.1:p.Glu1221Ter
NP_001394527.1:p.Glu1221Ter
NP_001394531.1:p.Glu1221Ter
NP_001394532.1:p.Glu1221Ter
NP_001394534.1:p.Glu1221Ter
NP_001394539.1:p.Glu1220Ter
NP_001394540.1:p.Glu1220Ter
NP_001394541.1:p.Glu1220Ter
NP_001394542.1:p.Glu1220Ter
NP_001394543.1:p.Glu1220Ter
NP_001394544.1:p.Glu1220Ter
NP_001394545.1:p.Glu1221Ter
NP_001394546.1:p.Glu1221Ter
NP_001394547.1:p.Glu1221Ter
NP_001394548.1:p.Glu1221Ter
NP_001394549.1:p.Glu1221Ter
NP_001394550.1:p.Glu1221Ter
NP_001394551.1:p.Glu1221Ter
NP_001394552.1:p.Glu1221Ter
NP_001394553.1:p.Glu1221Ter
NP_001394554.1:p.Glu1221Ter
NP_001394555.1:p.Glu1221Ter
NP_001394556.1:p.Glu1220Ter
NP_001394557.1:p.Glu1220Ter
NP_001394558.1:p.Glu1220Ter
NP_001394559.1:p.Glu1220Ter
NP_001394560.1:p.Glu1220Ter
NP_001394561.1:p.Glu1220Ter
NP_001394562.1:p.Glu1220Ter
NP_001394563.1:p.Glu1220Ter
NP_001394564.1:p.Glu1220Ter
NP_001394565.1:p.Glu1220Ter
NP_001394566.1:p.Glu1220Ter
NP_001394567.1:p.Glu1220Ter
NP_001394568.1:p.Glu1221Ter
NP_001394569.1:p.Glu1221Ter
NP_001394570.1:p.Glu1221Ter
NP_001394571.1:p.Glu1221Ter
NP_001394573.1:p.Glu1220Ter
NP_001394574.1:p.Glu1220Ter
NP_001394575.1:p.Glu1218Ter
NP_001394576.1:p.Glu1218Ter
NP_001394577.1:p.Glu1180Ter
NP_001394578.1:p.Glu1179Ter
NP_001394581.1:p.Glu1221Ter
NP_001394582.1:p.Glu1195Ter
NP_001394583.1:p.Glu1195Ter
NP_001394584.1:p.Glu1195Ter
NP_001394585.1:p.Glu1195Ter
NP_001394586.1:p.Glu1195Ter
NP_001394587.1:p.Glu1195Ter
NP_001394588.1:p.Glu1194Ter
NP_001394589.1:p.Glu1194Ter
NP_001394590.1:p.Glu1194Ter
NP_001394591.1:p.Glu1194Ter
NP_001394592.1:p.Glu1195Ter
NP_001394593.1:p.Glu1180Ter
NP_001394594.1:p.Glu1180Ter
NP_001394595.1:p.Glu1180Ter
NP_001394596.1:p.Glu1180Ter
NP_001394597.1:p.Glu1180Ter
NP_001394598.1:p.Glu1180Ter
NP_001394599.1:p.Glu1179Ter
NP_001394600.1:p.Glu1179Ter
NP_001394601.1:p.Glu1179Ter
NP_001394602.1:p.Glu1179Ter
NP_001394603.1:p.Glu1180Ter
NP_001394604.1:p.Glu1180Ter
NP_001394605.1:p.Glu1180Ter
NP_001394606.1:p.Glu1180Ter
NP_001394607.1:p.Glu1180Ter
NP_001394608.1:p.Glu1180Ter
NP_001394609.1:p.Glu1180Ter
NP_001394610.1:p.Glu1180Ter
NP_001394611.1:p.Glu1180Ter
NP_001394612.1:p.Glu1180Ter
NP_001394613.1:p.Glu1221Ter
NP_001394614.1:p.Glu1179Ter
NP_001394615.1:p.Glu1179Ter
NP_001394616.1:p.Glu1179Ter
NP_001394617.1:p.Glu1179Ter
NP_001394618.1:p.Glu1179Ter
NP_001394619.1:p.Glu1179Ter
NP_001394620.1:p.Glu1179Ter
NP_001394621.1:p.Glu1174Ter
NP_001394623.1:p.Glu1174Ter
NP_001394624.1:p.Glu1174Ter
NP_001394625.1:p.Glu1174Ter
NP_001394626.1:p.Glu1174Ter
NP_001394627.1:p.Glu1174Ter
NP_001394653.1:p.Glu1174Ter
NP_001394654.1:p.Glu1174Ter
NP_001394655.1:p.Glu1174Ter
NP_001394656.1:p.Glu1174Ter
NP_001394657.1:p.Glu1174Ter
NP_001394658.1:p.Glu1174Ter
NP_001394659.1:p.Glu1174Ter
NP_001394660.1:p.Glu1174Ter
NP_001394661.1:p.Glu1174Ter
NP_001394662.1:p.Glu1174Ter
NP_001394663.1:p.Glu1174Ter
NP_001394664.1:p.Glu1174Ter
NP_001394665.1:p.Glu1174Ter
NP_001394666.1:p.Glu1174Ter
NP_001394667.1:p.Glu1174Ter
NP_001394668.1:p.Glu1174Ter
NP_001394669.1:p.Glu1173Ter
NP_001394670.1:p.Glu1173Ter
NP_001394671.1:p.Glu1173Ter
NP_001394672.1:p.Glu1173Ter
NP_001394673.1:p.Glu1173Ter
NP_001394674.1:p.Glu1173Ter
NP_001394675.1:p.Glu1173Ter
NP_001394676.1:p.Glu1173Ter
NP_001394677.1:p.Glu1173Ter
NP_001394678.1:p.Glu1173Ter
NP_001394679.1:p.Glu1174Ter
NP_001394680.1:p.Glu1174Ter
NP_001394681.1:p.Glu1174Ter
NP_001394767.1:p.Glu1173Ter
NP_001394768.1:p.Glu1173Ter
NP_001394770.1:p.Glu1173Ter
NP_001394771.1:p.Glu1173Ter
NP_001394772.1:p.Glu1173Ter
NP_001394773.1:p.Glu1173Ter
NP_001394774.1:p.Glu1173Ter
NP_001394775.1:p.Glu1173Ter
NP_001394776.1:p.Glu1173Ter
NP_001394777.1:p.Glu1173Ter
NP_001394778.1:p.Glu1173Ter
NP_001394779.1:p.Glu1174Ter
NP_001394780.1:p.Glu1174Ter
NP_001394781.1:p.Glu1174Ter
NP_001394782.1:p.Glu1150Ter
NP_001394783.1:p.Glu1221Ter
NP_001394787.1:p.Glu1221Ter
NP_001394788.1:p.Glu1221Ter
NP_001394789.1:p.Glu1220Ter
NP_001394790.1:p.Glu1220Ter
NP_001394791.1:p.Glu1154Ter
NP_001394792.1:p.Glu1180Ter
NP_001394803.1:p.Glu1153Ter
NP_001394804.1:p.Glu1153Ter
NP_001394808.1:p.Glu1151Ter
NP_001394810.1:p.Glu1151Ter
NP_001394811.1:p.Glu1151Ter
NP_001394813.1:p.Glu1151Ter
NP_001394814.1:p.Glu1151Ter
NP_001394815.1:p.Glu1151Ter
NP_001394816.1:p.Glu1151Ter
NP_001394818.1:p.Glu1151Ter
NP_001394823.1:p.Glu1150Ter
NP_001394824.1:p.Glu1150Ter
NP_001394825.1:p.Glu1150Ter
NP_001394826.1:p.Glu1150Ter
NP_001394827.1:p.Glu1150Ter
NP_001394828.1:p.Glu1150Ter
NP_001394829.1:p.Glu1151Ter
NP_001394831.1:p.Glu1151Ter
NP_001394833.1:p.Glu1151Ter
NP_001394835.1:p.Glu1151Ter
NP_001394836.1:p.Glu1151Ter
NP_001394837.1:p.Glu1151Ter
NP_001394838.1:p.Glu1151Ter
NP_001394839.1:p.Glu1151Ter
NP_001394844.1:p.Glu1150Ter
NP_001394845.1:p.Glu1150Ter
NP_001394846.1:p.Glu1150Ter
NP_001394847.1:p.Glu1150Ter
NP_001394848.1:p.Glu1180Ter
NP_001394849.1:p.Glu1133Ter
NP_001394850.1:p.Glu1133Ter
NP_001394851.1:p.Glu1133Ter
NP_001394852.1:p.Glu1133Ter
NP_001394853.1:p.Glu1133Ter
NP_001394854.1:p.Glu1133Ter
NP_001394855.1:p.Glu1133Ter
NP_001394856.1:p.Glu1133Ter
NP_001394857.1:p.Glu1133Ter
NP_001394858.1:p.Glu1133Ter
NP_001394859.1:p.Glu1132Ter
NP_001394860.1:p.Glu1132Ter
NP_001394861.1:p.Glu1132Ter
NP_001394862.1:p.Glu1133Ter
NP_001394863.1:p.Glu1132Ter
NP_001394864.1:p.Glu1133Ter
NP_001394865.1:p.Glu1132Ter
NP_001394866.1:p.Glu1180Ter
NP_001394867.1:p.Glu1180Ter
NP_001394868.1:p.Glu1180Ter
NP_001394869.1:p.Glu1179Ter
NP_001394870.1:p.Glu1179Ter
NP_001394871.1:p.Glu1174Ter
NP_001394872.1:p.Glu1173Ter
NP_001394873.1:p.Glu1174Ter
NP_001394874.1:p.Glu1174Ter
NP_001394875.1:p.Glu1110Ter
NP_001394876.1:p.Glu1110Ter
NP_001394877.1:p.Glu1110Ter
NP_001394878.1:p.Glu1110Ter
NP_001394879.1:p.Glu1110Ter
NP_001394880.1:p.Glu1110Ter
NP_001394881.1:p.Glu1110Ter
NP_001394882.1:p.Glu1110Ter
NP_001394883.1:p.Glu1109Ter
NP_001394884.1:p.Glu1109Ter
NP_001394885.1:p.Glu1109Ter
NP_001394886.1:p.Glu1110Ter
NP_001394887.1:p.Glu1109Ter
NP_001394888.1:p.Glu1094Ter
NP_001394889.1:p.Glu1094Ter
NP_001394891.1:p.Glu1093Ter
NP_001394892.1:p.Glu1094Ter
NP_001394893.1:p.Glu1173Ter
NP_001394894.1:p.Glu1053Ter
NP_001394895.1:p.Glu925Ter
NP_001394896.1:p.Glu925Ter
NP_001394897.1:p.Glu353Ter
NP_001394898.1:p.Glu353Ter
NP_009225.1:p.Glu1221Ter
NP_009225.1:p.Glu1221Ter
NP_009228.2:p.Glu1174Ter
NP_009231.2:p.Glu1221Ter
LRG_292t1:c.3661G>T
LRG_292:g.126114G>T
LRG_292p1:p.Glu1221Ter
NC_000017.10:g.41243887C>A
NM_007294.3:c.3661G>T
NR_027676.1:n.3797G>T
U14680.1:n.3780G>T
p.E1221*
p.Glu1221*

Nucleotide change:

3780G>T

Protein change:

E1053*

Links:

dbSNP: rs80357310

NCBI 1000 Genomes Browser:

rs80357310

Molecular consequence:

NM_001407970.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-847G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-838G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3652G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3652G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3583G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3583G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3583G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3583G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3583G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3583G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3580G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3580G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3580G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3580G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3583G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3460G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3457G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3457G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3451G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3448G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3397G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3535G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3325G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3325G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3325G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3325G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3280G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3280G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3277G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3280G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3517G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3157G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2773G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2773G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1057G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1057G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

ribulose bisphosphate carboxylase small chain, chloroplastic-like [Sesamum indic...
ribulose bisphosphate carboxylase small chain, chloroplastic-like [Sesamum indicum]
gi|747047877|ref|XP_011069924.1|

Protein
p53, partial [Homo sapiens]
p53, partial [Homo sapiens]
gi|1210890619|gb|ASE05890.1|

Protein
Chain E, ECOTIN
Chain E, ECOTIN
gi|10835844|pdb|1FI8|E

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210152	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 13, 2017)	germline	clinical testing	Citation Link,
SCV001744841	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001958336	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV002020156	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 5, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002585645	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Aug 1, 2022)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000210152.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This pathogenic variant is denoted BRCA1 c.3661G>T at the cDNA level and p.Glu1221Ter (E1221X) at the protein level. The substitution creates a nonsense variant, changing a Glutamic Acid to a premature stop codon (GAA>TAA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also reported as 3780G>T using alternate nomenclature, has been reported in association with hereditary breast and ovarian cancer (Peelen 1997, Dong 1998, Claes 2004, De Leeneer 2012, Hasmad 2015) and is considered pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001744841.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001958336.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002020156.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV002585645.13

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

BRCA1: PVS1, PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 16, 2024

ClinVar

Relating variation to medicine