NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 1, 2023
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:: RCV000131802.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn)]

NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn)

HGVS:

NC_000017.11:g.43104183C>T
NG_005905.2:g.113801G>A
NM_001407571.1:c.170G>A
NM_001407581.1:c.380G>A
NM_001407582.1:c.380G>A
NM_001407583.1:c.380G>A
NM_001407585.1:c.380G>A
NM_001407587.1:c.380G>A
NM_001407590.1:c.380G>A
NM_001407591.1:c.380G>A
NM_001407593.1:c.380G>A
NM_001407594.1:c.380G>A
NM_001407596.1:c.380G>A
NM_001407597.1:c.380G>A
NM_001407598.1:c.380G>A
NM_001407602.1:c.380G>A
NM_001407603.1:c.380G>A
NM_001407605.1:c.380G>A
NM_001407610.1:c.380G>A
NM_001407611.1:c.380G>A
NM_001407612.1:c.380G>A
NM_001407613.1:c.380G>A
NM_001407614.1:c.380G>A
NM_001407615.1:c.380G>A
NM_001407616.1:c.380G>A
NM_001407617.1:c.380G>A
NM_001407618.1:c.380G>A
NM_001407619.1:c.380G>A
NM_001407620.1:c.380G>A
NM_001407621.1:c.380G>A
NM_001407622.1:c.380G>A
NM_001407623.1:c.380G>A
NM_001407624.1:c.380G>A
NM_001407625.1:c.380G>A
NM_001407626.1:c.380G>A
NM_001407627.1:c.380G>A
NM_001407628.1:c.380G>A
NM_001407629.1:c.380G>A
NM_001407630.1:c.380G>A
NM_001407631.1:c.380G>A
NM_001407632.1:c.380G>A
NM_001407633.1:c.380G>A
NM_001407634.1:c.380G>A
NM_001407635.1:c.380G>A
NM_001407636.1:c.380G>A
NM_001407637.1:c.380G>A
NM_001407638.1:c.380G>A
NM_001407639.1:c.380G>A
NM_001407640.1:c.380G>A
NM_001407641.1:c.380G>A
NM_001407642.1:c.380G>A
NM_001407644.1:c.380G>A
NM_001407645.1:c.380G>A
NM_001407646.1:c.371G>A
NM_001407647.1:c.371G>A
NM_001407648.1:c.380G>A
NM_001407649.1:c.380G>A
NM_001407652.1:c.380G>A
NM_001407653.1:c.302G>A
NM_001407654.1:c.302G>A
NM_001407655.1:c.302G>A
NM_001407656.1:c.302G>A
NM_001407657.1:c.302G>A
NM_001407658.1:c.302G>A
NM_001407659.1:c.302G>A
NM_001407660.1:c.302G>A
NM_001407661.1:c.302G>A
NM_001407662.1:c.302G>A
NM_001407663.1:c.302G>A
NM_001407664.1:c.380G>A
NM_001407665.1:c.380G>A
NM_001407666.1:c.380G>A
NM_001407667.1:c.380G>A
NM_001407668.1:c.380G>A
NM_001407669.1:c.380G>A
NM_001407670.1:c.380G>A
NM_001407671.1:c.380G>A
NM_001407672.1:c.380G>A
NM_001407673.1:c.380G>A
NM_001407674.1:c.380G>A
NM_001407675.1:c.380G>A
NM_001407676.1:c.380G>A
NM_001407677.1:c.380G>A
NM_001407678.1:c.380G>A
NM_001407679.1:c.380G>A
NM_001407680.1:c.380G>A
NM_001407681.1:c.380G>A
NM_001407682.1:c.380G>A
NM_001407683.1:c.380G>A
NM_001407684.1:c.380G>A
NM_001407685.1:c.380G>A
NM_001407686.1:c.380G>A
NM_001407687.1:c.380G>A
NM_001407688.1:c.380G>A
NM_001407689.1:c.380G>A
NM_001407690.1:c.380G>A
NM_001407691.1:c.380G>A
NM_001407692.1:c.239G>A
NM_001407694.1:c.239G>A
NM_001407695.1:c.239G>A
NM_001407696.1:c.239G>A
NM_001407697.1:c.239G>A
NM_001407698.1:c.239G>A
NM_001407724.1:c.239G>A
NM_001407725.1:c.239G>A
NM_001407726.1:c.239G>A
NM_001407727.1:c.239G>A
NM_001407728.1:c.239G>A
NM_001407729.1:c.239G>A
NM_001407730.1:c.239G>A
NM_001407731.1:c.239G>A
NM_001407732.1:c.239G>A
NM_001407733.1:c.239G>A
NM_001407734.1:c.239G>A
NM_001407735.1:c.239G>A
NM_001407736.1:c.239G>A
NM_001407737.1:c.239G>A
NM_001407738.1:c.239G>A
NM_001407739.1:c.239G>A
NM_001407740.1:c.239G>A
NM_001407741.1:c.239G>A
NM_001407742.1:c.239G>A
NM_001407743.1:c.239G>A
NM_001407744.1:c.239G>A
NM_001407745.1:c.239G>A
NM_001407746.1:c.239G>A
NM_001407747.1:c.239G>A
NM_001407748.1:c.239G>A
NM_001407749.1:c.239G>A
NM_001407750.1:c.239G>A
NM_001407751.1:c.239G>A
NM_001407752.1:c.239G>A
NM_001407838.1:c.239G>A
NM_001407839.1:c.239G>A
NM_001407841.1:c.239G>A
NM_001407842.1:c.239G>A
NM_001407843.1:c.239G>A
NM_001407844.1:c.239G>A
NM_001407845.1:c.239G>A
NM_001407846.1:c.239G>A
NM_001407847.1:c.239G>A
NM_001407848.1:c.239G>A
NM_001407849.1:c.239G>A
NM_001407850.1:c.239G>A
NM_001407851.1:c.239G>A
NM_001407852.1:c.239G>A
NM_001407853.1:c.170G>A
NM_001407854.1:c.380G>A
NM_001407858.1:c.380G>A
NM_001407859.1:c.380G>A
NM_001407860.1:c.380G>A
NM_001407861.1:c.380G>A
NM_001407862.1:c.302G>A
NM_001407863.1:c.380G>A
NM_001407874.1:c.302G>A
NM_001407875.1:c.302G>A
NM_001407879.1:c.170G>A
NM_001407881.1:c.170G>A
NM_001407882.1:c.170G>A
NM_001407884.1:c.170G>A
NM_001407885.1:c.170G>A
NM_001407886.1:c.170G>A
NM_001407887.1:c.170G>A
NM_001407889.1:c.170G>A
NM_001407894.1:c.170G>A
NM_001407895.1:c.170G>A
NM_001407896.1:c.170G>A
NM_001407897.1:c.170G>A
NM_001407898.1:c.170G>A
NM_001407899.1:c.170G>A
NM_001407900.1:c.170G>A
NM_001407902.1:c.170G>A
NM_001407904.1:c.170G>A
NM_001407906.1:c.170G>A
NM_001407907.1:c.170G>A
NM_001407908.1:c.170G>A
NM_001407909.1:c.170G>A
NM_001407910.1:c.170G>A
NM_001407915.1:c.170G>A
NM_001407916.1:c.170G>A
NM_001407917.1:c.170G>A
NM_001407918.1:c.170G>A
NM_001407919.1:c.380G>A
NM_001407920.1:c.239G>A
NM_001407921.1:c.239G>A
NM_001407922.1:c.239G>A
NM_001407923.1:c.239G>A
NM_001407924.1:c.239G>A
NM_001407925.1:c.239G>A
NM_001407926.1:c.239G>A
NM_001407927.1:c.239G>A
NM_001407928.1:c.239G>A
NM_001407929.1:c.239G>A
NM_001407930.1:c.239G>A
NM_001407931.1:c.239G>A
NM_001407932.1:c.239G>A
NM_001407933.1:c.239G>A
NM_001407934.1:c.239G>A
NM_001407935.1:c.239G>A
NM_001407936.1:c.239G>A
NM_001407937.1:c.380G>A
NM_001407938.1:c.380G>A
NM_001407939.1:c.380G>A
NM_001407940.1:c.380G>A
NM_001407941.1:c.380G>A
NM_001407942.1:c.239G>A
NM_001407943.1:c.239G>A
NM_001407944.1:c.239G>A
NM_001407945.1:c.239G>A
NM_001407946.1:c.170G>A
NM_001407947.1:c.170G>A
NM_001407948.1:c.170G>A
NM_001407949.1:c.170G>A
NM_001407950.1:c.170G>A
NM_001407951.1:c.170G>A
NM_001407952.1:c.170G>A
NM_001407953.1:c.170G>A
NM_001407954.1:c.170G>A
NM_001407955.1:c.170G>A
NM_001407956.1:c.170G>A
NM_001407957.1:c.170G>A
NM_001407958.1:c.170G>A
NM_001407959.1:c.-2G>A
NM_001407960.1:c.-2G>A
NM_001407962.1:c.-2G>A
NM_001407963.1:c.-2G>A
NM_001407964.1:c.239G>A
NM_001407965.1:c.-2G>A
NM_001407966.1:c.-218-9323G>A
NM_001407967.1:c.-218-9323G>A
NM_001407968.1:c.380G>A
NM_001407969.1:c.380G>A
NM_001407970.1:c.380G>A
NM_001407971.1:c.380G>A
NM_001407972.1:c.380G>A
NM_001407973.1:c.380G>A
NM_001407974.1:c.380G>A
NM_001407975.1:c.380G>A
NM_001407976.1:c.380G>A
NM_001407977.1:c.380G>A
NM_001407978.1:c.380G>A
NM_001407979.1:c.380G>A
NM_001407980.1:c.380G>A
NM_001407981.1:c.380G>A
NM_001407982.1:c.380G>A
NM_001407983.1:c.380G>A
NM_001407984.1:c.380G>A
NM_001407985.1:c.380G>A
NM_001407986.1:c.380G>A
NM_001407990.1:c.380G>A
NM_001407991.1:c.380G>A
NM_001407992.1:c.380G>A
NM_001407993.1:c.380G>A
NM_001408392.1:c.380G>A
NM_001408396.1:c.380G>A
NM_001408397.1:c.380G>A
NM_001408398.1:c.380G>A
NM_001408399.1:c.380G>A
NM_001408400.1:c.380G>A
NM_001408401.1:c.380G>A
NM_001408402.1:c.380G>A
NM_001408403.1:c.380G>A
NM_001408404.1:c.380G>A
NM_001408406.1:c.380G>A
NM_001408407.1:c.380G>A
NM_001408408.1:c.371G>A
NM_001408409.1:c.302G>A
NM_001408410.1:c.239G>A
NM_001408411.1:c.302G>A
NM_001408412.1:c.302G>A
NM_001408413.1:c.302G>A
NM_001408414.1:c.302G>A
NM_001408415.1:c.302G>A
NM_001408416.1:c.302G>A
NM_001408418.1:c.380G>A
NM_001408419.1:c.380G>A
NM_001408420.1:c.380G>A
NM_001408421.1:c.380G>A
NM_001408422.1:c.380G>A
NM_001408423.1:c.380G>A
NM_001408424.1:c.380G>A
NM_001408425.1:c.380G>A
NM_001408426.1:c.380G>A
NM_001408427.1:c.380G>A
NM_001408428.1:c.380G>A
NM_001408429.1:c.380G>A
NM_001408430.1:c.380G>A
NM_001408431.1:c.380G>A
NM_001408432.1:c.380G>A
NM_001408433.1:c.380G>A
NM_001408434.1:c.380G>A
NM_001408435.1:c.380G>A
NM_001408436.1:c.380G>A
NM_001408437.1:c.380G>A
NM_001408438.1:c.380G>A
NM_001408439.1:c.380G>A
NM_001408440.1:c.380G>A
NM_001408441.1:c.380G>A
NM_001408442.1:c.380G>A
NM_001408443.1:c.380G>A
NM_001408444.1:c.380G>A
NM_001408445.1:c.380G>A
NM_001408446.1:c.380G>A
NM_001408447.1:c.380G>A
NM_001408448.1:c.380G>A
NM_001408450.1:c.380G>A
NM_001408451.1:c.248G>A
NM_001408452.1:c.239G>A
NM_001408453.1:c.239G>A
NM_001408454.1:c.239G>A
NM_001408455.1:c.239G>A
NM_001408456.1:c.239G>A
NM_001408457.1:c.239G>A
NM_001408458.1:c.239G>A
NM_001408459.1:c.239G>A
NM_001408460.1:c.239G>A
NM_001408461.1:c.239G>A
NM_001408462.1:c.239G>A
NM_001408463.1:c.239G>A
NM_001408464.1:c.239G>A
NM_001408465.1:c.239G>A
NM_001408466.1:c.239G>A
NM_001408467.1:c.239G>A
NM_001408468.1:c.239G>A
NM_001408469.1:c.239G>A
NM_001408470.1:c.239G>A
NM_001408472.1:c.380G>A
NM_001408473.1:c.380G>A
NM_001408474.1:c.302G>A
NM_001408475.1:c.302G>A
NM_001408476.1:c.302G>A
NM_001408478.1:c.170G>A
NM_001408479.1:c.170G>A
NM_001408480.1:c.170G>A
NM_001408481.1:c.170G>A
NM_001408482.1:c.170G>A
NM_001408483.1:c.170G>A
NM_001408484.1:c.170G>A
NM_001408485.1:c.170G>A
NM_001408489.1:c.170G>A
NM_001408490.1:c.170G>A
NM_001408491.1:c.170G>A
NM_001408492.1:c.170G>A
NM_001408493.1:c.170G>A
NM_001408494.1:c.380G>A
NM_001408495.1:c.380G>A
NM_001408496.1:c.239G>A
NM_001408497.1:c.239G>A
NM_001408498.1:c.239G>A
NM_001408499.1:c.239G>A
NM_001408500.1:c.239G>A
NM_001408501.1:c.239G>A
NM_001408502.1:c.170G>A
NM_001408503.1:c.239G>A
NM_001408504.1:c.239G>A
NM_001408505.1:c.239G>A
NM_001408506.1:c.170G>A
NM_001408507.1:c.170G>A
NM_001408508.1:c.170G>A
NM_001408509.1:c.170G>A
NM_001408510.1:c.-2G>A
NM_001408511.1:c.239G>A
NM_001408512.1:c.-2G>A
NM_001408513.1:c.170G>A
NM_001408514.1:c.170G>A
NM_007294.4:c.380G>AMANE SELECT
NM_007297.4:c.239G>A
NM_007298.4:c.380G>A
NM_007299.4:c.380G>A
NM_007300.4:c.380G>A
NM_007304.2:c.380G>A
NP_001394500.1:p.Ser57Asn
NP_001394510.1:p.Ser127Asn
NP_001394511.1:p.Ser127Asn
NP_001394512.1:p.Ser127Asn
NP_001394514.1:p.Ser127Asn
NP_001394516.1:p.Ser127Asn
NP_001394519.1:p.Ser127Asn
NP_001394520.1:p.Ser127Asn
NP_001394522.1:p.Ser127Asn
NP_001394523.1:p.Ser127Asn
NP_001394525.1:p.Ser127Asn
NP_001394526.1:p.Ser127Asn
NP_001394527.1:p.Ser127Asn
NP_001394531.1:p.Ser127Asn
NP_001394532.1:p.Ser127Asn
NP_001394534.1:p.Ser127Asn
NP_001394539.1:p.Ser127Asn
NP_001394540.1:p.Ser127Asn
NP_001394541.1:p.Ser127Asn
NP_001394542.1:p.Ser127Asn
NP_001394543.1:p.Ser127Asn
NP_001394544.1:p.Ser127Asn
NP_001394545.1:p.Ser127Asn
NP_001394546.1:p.Ser127Asn
NP_001394547.1:p.Ser127Asn
NP_001394548.1:p.Ser127Asn
NP_001394549.1:p.Ser127Asn
NP_001394550.1:p.Ser127Asn
NP_001394551.1:p.Ser127Asn
NP_001394552.1:p.Ser127Asn
NP_001394553.1:p.Ser127Asn
NP_001394554.1:p.Ser127Asn
NP_001394555.1:p.Ser127Asn
NP_001394556.1:p.Ser127Asn
NP_001394557.1:p.Ser127Asn
NP_001394558.1:p.Ser127Asn
NP_001394559.1:p.Ser127Asn
NP_001394560.1:p.Ser127Asn
NP_001394561.1:p.Ser127Asn
NP_001394562.1:p.Ser127Asn
NP_001394563.1:p.Ser127Asn
NP_001394564.1:p.Ser127Asn
NP_001394565.1:p.Ser127Asn
NP_001394566.1:p.Ser127Asn
NP_001394567.1:p.Ser127Asn
NP_001394568.1:p.Ser127Asn
NP_001394569.1:p.Ser127Asn
NP_001394570.1:p.Ser127Asn
NP_001394571.1:p.Ser127Asn
NP_001394573.1:p.Ser127Asn
NP_001394574.1:p.Ser127Asn
NP_001394575.1:p.Ser124Asn
NP_001394576.1:p.Ser124Asn
NP_001394577.1:p.Ser127Asn
NP_001394578.1:p.Ser127Asn
NP_001394581.1:p.Ser127Asn
NP_001394582.1:p.Ser101Asn
NP_001394583.1:p.Ser101Asn
NP_001394584.1:p.Ser101Asn
NP_001394585.1:p.Ser101Asn
NP_001394586.1:p.Ser101Asn
NP_001394587.1:p.Ser101Asn
NP_001394588.1:p.Ser101Asn
NP_001394589.1:p.Ser101Asn
NP_001394590.1:p.Ser101Asn
NP_001394591.1:p.Ser101Asn
NP_001394592.1:p.Ser101Asn
NP_001394593.1:p.Ser127Asn
NP_001394594.1:p.Ser127Asn
NP_001394595.1:p.Ser127Asn
NP_001394596.1:p.Ser127Asn
NP_001394597.1:p.Ser127Asn
NP_001394598.1:p.Ser127Asn
NP_001394599.1:p.Ser127Asn
NP_001394600.1:p.Ser127Asn
NP_001394601.1:p.Ser127Asn
NP_001394602.1:p.Ser127Asn
NP_001394603.1:p.Ser127Asn
NP_001394604.1:p.Ser127Asn
NP_001394605.1:p.Ser127Asn
NP_001394606.1:p.Ser127Asn
NP_001394607.1:p.Ser127Asn
NP_001394608.1:p.Ser127Asn
NP_001394609.1:p.Ser127Asn
NP_001394610.1:p.Ser127Asn
NP_001394611.1:p.Ser127Asn
NP_001394612.1:p.Ser127Asn
NP_001394613.1:p.Ser127Asn
NP_001394614.1:p.Ser127Asn
NP_001394615.1:p.Ser127Asn
NP_001394616.1:p.Ser127Asn
NP_001394617.1:p.Ser127Asn
NP_001394618.1:p.Ser127Asn
NP_001394619.1:p.Ser127Asn
NP_001394620.1:p.Ser127Asn
NP_001394621.1:p.Ser80Asn
NP_001394623.1:p.Ser80Asn
NP_001394624.1:p.Ser80Asn
NP_001394625.1:p.Ser80Asn
NP_001394626.1:p.Ser80Asn
NP_001394627.1:p.Ser80Asn
NP_001394653.1:p.Ser80Asn
NP_001394654.1:p.Ser80Asn
NP_001394655.1:p.Ser80Asn
NP_001394656.1:p.Ser80Asn
NP_001394657.1:p.Ser80Asn
NP_001394658.1:p.Ser80Asn
NP_001394659.1:p.Ser80Asn
NP_001394660.1:p.Ser80Asn
NP_001394661.1:p.Ser80Asn
NP_001394662.1:p.Ser80Asn
NP_001394663.1:p.Ser80Asn
NP_001394664.1:p.Ser80Asn
NP_001394665.1:p.Ser80Asn
NP_001394666.1:p.Ser80Asn
NP_001394667.1:p.Ser80Asn
NP_001394668.1:p.Ser80Asn
NP_001394669.1:p.Ser80Asn
NP_001394670.1:p.Ser80Asn
NP_001394671.1:p.Ser80Asn
NP_001394672.1:p.Ser80Asn
NP_001394673.1:p.Ser80Asn
NP_001394674.1:p.Ser80Asn
NP_001394675.1:p.Ser80Asn
NP_001394676.1:p.Ser80Asn
NP_001394677.1:p.Ser80Asn
NP_001394678.1:p.Ser80Asn
NP_001394679.1:p.Ser80Asn
NP_001394680.1:p.Ser80Asn
NP_001394681.1:p.Ser80Asn
NP_001394767.1:p.Ser80Asn
NP_001394768.1:p.Ser80Asn
NP_001394770.1:p.Ser80Asn
NP_001394771.1:p.Ser80Asn
NP_001394772.1:p.Ser80Asn
NP_001394773.1:p.Ser80Asn
NP_001394774.1:p.Ser80Asn
NP_001394775.1:p.Ser80Asn
NP_001394776.1:p.Ser80Asn
NP_001394777.1:p.Ser80Asn
NP_001394778.1:p.Ser80Asn
NP_001394779.1:p.Ser80Asn
NP_001394780.1:p.Ser80Asn
NP_001394781.1:p.Ser80Asn
NP_001394782.1:p.Ser57Asn
NP_001394783.1:p.Ser127Asn
NP_001394787.1:p.Ser127Asn
NP_001394788.1:p.Ser127Asn
NP_001394789.1:p.Ser127Asn
NP_001394790.1:p.Ser127Asn
NP_001394791.1:p.Ser101Asn
NP_001394792.1:p.Ser127Asn
NP_001394803.1:p.Ser101Asn
NP_001394804.1:p.Ser101Asn
NP_001394808.1:p.Ser57Asn
NP_001394810.1:p.Ser57Asn
NP_001394811.1:p.Ser57Asn
NP_001394813.1:p.Ser57Asn
NP_001394814.1:p.Ser57Asn
NP_001394815.1:p.Ser57Asn
NP_001394816.1:p.Ser57Asn
NP_001394818.1:p.Ser57Asn
NP_001394823.1:p.Ser57Asn
NP_001394824.1:p.Ser57Asn
NP_001394825.1:p.Ser57Asn
NP_001394826.1:p.Ser57Asn
NP_001394827.1:p.Ser57Asn
NP_001394828.1:p.Ser57Asn
NP_001394829.1:p.Ser57Asn
NP_001394831.1:p.Ser57Asn
NP_001394833.1:p.Ser57Asn
NP_001394835.1:p.Ser57Asn
NP_001394836.1:p.Ser57Asn
NP_001394837.1:p.Ser57Asn
NP_001394838.1:p.Ser57Asn
NP_001394839.1:p.Ser57Asn
NP_001394844.1:p.Ser57Asn
NP_001394845.1:p.Ser57Asn
NP_001394846.1:p.Ser57Asn
NP_001394847.1:p.Ser57Asn
NP_001394848.1:p.Ser127Asn
NP_001394849.1:p.Ser80Asn
NP_001394850.1:p.Ser80Asn
NP_001394851.1:p.Ser80Asn
NP_001394852.1:p.Ser80Asn
NP_001394853.1:p.Ser80Asn
NP_001394854.1:p.Ser80Asn
NP_001394855.1:p.Ser80Asn
NP_001394856.1:p.Ser80Asn
NP_001394857.1:p.Ser80Asn
NP_001394858.1:p.Ser80Asn
NP_001394859.1:p.Ser80Asn
NP_001394860.1:p.Ser80Asn
NP_001394861.1:p.Ser80Asn
NP_001394862.1:p.Ser80Asn
NP_001394863.1:p.Ser80Asn
NP_001394864.1:p.Ser80Asn
NP_001394865.1:p.Ser80Asn
NP_001394866.1:p.Ser127Asn
NP_001394867.1:p.Ser127Asn
NP_001394868.1:p.Ser127Asn
NP_001394869.1:p.Ser127Asn
NP_001394870.1:p.Ser127Asn
NP_001394871.1:p.Ser80Asn
NP_001394872.1:p.Ser80Asn
NP_001394873.1:p.Ser80Asn
NP_001394874.1:p.Ser80Asn
NP_001394875.1:p.Ser57Asn
NP_001394876.1:p.Ser57Asn
NP_001394877.1:p.Ser57Asn
NP_001394878.1:p.Ser57Asn
NP_001394879.1:p.Ser57Asn
NP_001394880.1:p.Ser57Asn
NP_001394881.1:p.Ser57Asn
NP_001394882.1:p.Ser57Asn
NP_001394883.1:p.Ser57Asn
NP_001394884.1:p.Ser57Asn
NP_001394885.1:p.Ser57Asn
NP_001394886.1:p.Ser57Asn
NP_001394887.1:p.Ser57Asn
NP_001394893.1:p.Ser80Asn
NP_001394897.1:p.Ser127Asn
NP_001394898.1:p.Ser127Asn
NP_001394899.1:p.Ser127Asn
NP_001394900.1:p.Ser127Asn
NP_001394901.1:p.Ser127Asn
NP_001394902.1:p.Ser127Asn
NP_001394903.1:p.Ser127Asn
NP_001394904.1:p.Ser127Asn
NP_001394905.1:p.Ser127Asn
NP_001394906.1:p.Ser127Asn
NP_001394907.1:p.Ser127Asn
NP_001394908.1:p.Ser127Asn
NP_001394909.1:p.Ser127Asn
NP_001394910.1:p.Ser127Asn
NP_001394911.1:p.Ser127Asn
NP_001394912.1:p.Ser127Asn
NP_001394913.1:p.Ser127Asn
NP_001394914.1:p.Ser127Asn
NP_001394915.1:p.Ser127Asn
NP_001394919.1:p.Ser127Asn
NP_001394920.1:p.Ser127Asn
NP_001394921.1:p.Ser127Asn
NP_001394922.1:p.Ser127Asn
NP_001395321.1:p.Ser127Asn
NP_001395325.1:p.Ser127Asn
NP_001395326.1:p.Ser127Asn
NP_001395327.1:p.Ser127Asn
NP_001395328.1:p.Ser127Asn
NP_001395329.1:p.Ser127Asn
NP_001395330.1:p.Ser127Asn
NP_001395331.1:p.Ser127Asn
NP_001395332.1:p.Ser127Asn
NP_001395333.1:p.Ser127Asn
NP_001395335.1:p.Ser127Asn
NP_001395336.1:p.Ser127Asn
NP_001395337.1:p.Ser124Asn
NP_001395338.1:p.Ser101Asn
NP_001395339.1:p.Ser80Asn
NP_001395340.1:p.Ser101Asn
NP_001395341.1:p.Ser101Asn
NP_001395342.1:p.Ser101Asn
NP_001395343.1:p.Ser101Asn
NP_001395344.1:p.Ser101Asn
NP_001395345.1:p.Ser101Asn
NP_001395347.1:p.Ser127Asn
NP_001395348.1:p.Ser127Asn
NP_001395349.1:p.Ser127Asn
NP_001395350.1:p.Ser127Asn
NP_001395351.1:p.Ser127Asn
NP_001395352.1:p.Ser127Asn
NP_001395353.1:p.Ser127Asn
NP_001395354.1:p.Ser127Asn
NP_001395355.1:p.Ser127Asn
NP_001395356.1:p.Ser127Asn
NP_001395357.1:p.Ser127Asn
NP_001395358.1:p.Ser127Asn
NP_001395359.1:p.Ser127Asn
NP_001395360.1:p.Ser127Asn
NP_001395361.1:p.Ser127Asn
NP_001395362.1:p.Ser127Asn
NP_001395363.1:p.Ser127Asn
NP_001395364.1:p.Ser127Asn
NP_001395365.1:p.Ser127Asn
NP_001395366.1:p.Ser127Asn
NP_001395367.1:p.Ser127Asn
NP_001395368.1:p.Ser127Asn
NP_001395369.1:p.Ser127Asn
NP_001395370.1:p.Ser127Asn
NP_001395371.1:p.Ser127Asn
NP_001395372.1:p.Ser127Asn
NP_001395373.1:p.Ser127Asn
NP_001395374.1:p.Ser127Asn
NP_001395375.1:p.Ser127Asn
NP_001395376.1:p.Ser127Asn
NP_001395377.1:p.Ser127Asn
NP_001395379.1:p.Ser127Asn
NP_001395380.1:p.Ser83Asn
NP_001395381.1:p.Ser80Asn
NP_001395382.1:p.Ser80Asn
NP_001395383.1:p.Ser80Asn
NP_001395384.1:p.Ser80Asn
NP_001395385.1:p.Ser80Asn
NP_001395386.1:p.Ser80Asn
NP_001395387.1:p.Ser80Asn
NP_001395388.1:p.Ser80Asn
NP_001395389.1:p.Ser80Asn
NP_001395390.1:p.Ser80Asn
NP_001395391.1:p.Ser80Asn
NP_001395392.1:p.Ser80Asn
NP_001395393.1:p.Ser80Asn
NP_001395394.1:p.Ser80Asn
NP_001395395.1:p.Ser80Asn
NP_001395396.1:p.Ser80Asn
NP_001395397.1:p.Ser80Asn
NP_001395398.1:p.Ser80Asn
NP_001395399.1:p.Ser80Asn
NP_001395401.1:p.Ser127Asn
NP_001395402.1:p.Ser127Asn
NP_001395403.1:p.Ser101Asn
NP_001395404.1:p.Ser101Asn
NP_001395405.1:p.Ser101Asn
NP_001395407.1:p.Ser57Asn
NP_001395408.1:p.Ser57Asn
NP_001395409.1:p.Ser57Asn
NP_001395410.1:p.Ser57Asn
NP_001395411.1:p.Ser57Asn
NP_001395412.1:p.Ser57Asn
NP_001395413.1:p.Ser57Asn
NP_001395414.1:p.Ser57Asn
NP_001395418.1:p.Ser57Asn
NP_001395419.1:p.Ser57Asn
NP_001395420.1:p.Ser57Asn
NP_001395421.1:p.Ser57Asn
NP_001395422.1:p.Ser57Asn
NP_001395423.1:p.Ser127Asn
NP_001395424.1:p.Ser127Asn
NP_001395425.1:p.Ser80Asn
NP_001395426.1:p.Ser80Asn
NP_001395427.1:p.Ser80Asn
NP_001395428.1:p.Ser80Asn
NP_001395429.1:p.Ser80Asn
NP_001395430.1:p.Ser80Asn
NP_001395431.1:p.Ser57Asn
NP_001395432.1:p.Ser80Asn
NP_001395433.1:p.Ser80Asn
NP_001395434.1:p.Ser80Asn
NP_001395435.1:p.Ser57Asn
NP_001395436.1:p.Ser57Asn
NP_001395437.1:p.Ser57Asn
NP_001395438.1:p.Ser57Asn
NP_001395440.1:p.Ser80Asn
NP_001395442.1:p.Ser57Asn
NP_001395443.1:p.Ser57Asn
NP_009225.1:p.Ser127Asn
NP_009225.1:p.Ser127Asn
NP_009228.2:p.Ser80Asn
NP_009229.2:p.Ser127Asn
NP_009230.2:p.Ser127Asn
NP_009231.2:p.Ser127Asn
NP_009235.2:p.Ser127Asn
LRG_292t1:c.380G>A
LRG_292:g.113801G>A
LRG_292p1:p.Ser127Asn
NC_000017.10:g.41256200C>T
NM_007294.3:c.380G>A
NR_027676.2:n.560G>A
U14680.1:n.499G>A
p.S127N

Protein change:

S101N

Links:

dbSNP: rs80357189

NCBI 1000 Genomes Browser:

rs80357189

Molecular consequence:

NM_001407959.1:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407960.1:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407962.1:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407963.1:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407965.1:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001408510.1:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001408512.1:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407966.1:c.-218-9323G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-218-9323G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.371G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.371G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.371G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408513.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408514.1:c.170G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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BioSample links for Nucleotide (Select 2372264982) (1)
BioSample
CIH
CIH

biosample
Saccharomyces cerevisiae genome assembly, contig: chrIV_4, whole genome shotgun ...
Saccharomyces cerevisiae genome assembly, contig: chrIV_4, whole genome shotgun sequence
gi|2372265125|emb|CANCAJ030000011.1 |WGS:CANCAJ03|chrIV_4

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000186854	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 1, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18824701, 18951461 Citation Link,
SCV000688454	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 7, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18824701, 31131967, 31825140, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000186854

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 1, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000688454

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 7, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A.

Hum Mutat. 2008 Nov;29(11):1342-54. doi: 10.1002/humu.20896.

PubMed [citation]

PMID:: 18951461
PMCID:: PMC3938023

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE.

J Clin Oncol. 2008 Nov 20;26(33):5393-400. doi: 10.1200/JCO.2008.17.8228. Epub 2008 Sep 29. Erratum in: J Clin Oncol. 2009 May 10;27(14):2415.

PubMed [citation]

PMID:: 18824701
PMCID:: PMC2651073

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000186854.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.S127N variant (also known as c.380G>A), located in coding exon 5 of the BRCA1 gene, results from a G to A substitution at nucleotide position 380. The serine at codon 127 is replaced by asparagine, an amino acid with highly similar properties. This alteration has been classified as a variant of uncertain significance (p=0.1645) by multifactorial analysis, which integrates the following lines of evidence to produce a quantitative likelihood of pathogenicity: in silico prediction models, segregation with disease, tumor characteristics, and mutation co-occurrence (Spearman AD et al. J. Clin. Oncol. 2008; 26:5393-400; Tavtigian SV et al. Hum. Mutat. 2008; 29:1342-54). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000688454.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This missense variant replaces serine with asparagine at codon 127 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two individuals affected with breast or ovarian cancer (PMID: 18824701, 31825140). This variant also has been reported in a multifactorial analysis with co-occurrence and family history likelihood ratios for pathogenicity of 1.1391 and 3.672, respectively (PMID: 31131967). This variant has been identified in 6/251430 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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

Last Updated: Nov 3, 2024

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