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NM_015846.4(MBD1):c.1387G>A (p.Ala463Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004416834.1

Allele description [Variation Report for NM_015846.4(MBD1):c.1387G>A (p.Ala463Thr)]

NM_015846.4(MBD1):c.1387G>A (p.Ala463Thr)

Gene:
MBD1:methyl-CpG binding domain protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_015846.4(MBD1):c.1387G>A (p.Ala463Thr)
HGVS:
  • NC_000018.10:g.50273623C>T
  • NG_029505.1:g.13152G>A
  • NM_001204136.2:c.1387G>A
  • NM_001204137.2:c.1462G>A
  • NM_001204138.2:c.1459G>A
  • NM_001204139.2:c.1387G>A
  • NM_001204140.2:c.1294G>A
  • NM_001204141.2:c.1237G>A
  • NM_001204142.2:c.1387G>A
  • NM_001204143.2:c.1219G>A
  • NM_001204151.3:c.1318G>A
  • NM_001323942.2:c.1462G>A
  • NM_001323947.2:c.1462G>A
  • NM_001323949.2:c.955G>A
  • NM_001323950.2:c.1384G>A
  • NM_001323951.2:c.1387G>A
  • NM_001323952.2:c.1144G>A
  • NM_001323953.2:c.811G>A
  • NM_001323954.2:c.1150G>A
  • NM_001388138.1:c.1387G>A
  • NM_001388139.1:c.1294G>A
  • NM_001388140.1:c.1462G>A
  • NM_001388141.1:c.1459G>A
  • NM_001388142.1:c.1294G>A
  • NM_001388143.1:c.1294G>A
  • NM_001388144.1:c.1219G>A
  • NM_001388145.1:c.1462G>A
  • NM_001388146.1:c.1462G>A
  • NM_001388147.1:c.1462G>A
  • NM_001388148.1:c.1387G>A
  • NM_001388149.1:c.1387G>A
  • NM_001388150.1:c.1462G>A
  • NM_001388151.1:c.1294G>A
  • NM_001388152.1:c.1462G>A
  • NM_001388153.1:c.1462G>A
  • NM_001388154.1:c.1462G>A
  • NM_001388155.1:c.1387G>A
  • NM_001388156.1:c.1294G>A
  • NM_001388157.1:c.1219G>A
  • NM_001388158.1:c.1462G>A
  • NM_001388159.1:c.1462G>A
  • NM_001388160.1:c.1462G>A
  • NM_001388161.1:c.1219G>A
  • NM_001388162.1:c.1387G>A
  • NM_001388163.1:c.1387G>A
  • NM_001388164.1:c.1294G>A
  • NM_001388165.1:c.1219G>A
  • NM_001388166.1:c.1294G>A
  • NM_001388167.1:c.1219G>A
  • NM_001399879.1:c.1393G>A
  • NM_001399880.1:c.1540G>A
  • NM_001399881.1:c.1384G>A
  • NM_001399882.1:c.1387G>A
  • NM_001399883.1:c.1459G>A
  • NM_001399884.1:c.1384G>A
  • NM_001399885.1:c.1384G>A
  • NM_001399886.1:c.1462G>A
  • NM_001399887.1:c.1312G>A
  • NM_001399888.1:c.1459G>A
  • NM_001399889.1:c.1462G>A
  • NM_001399890.1:c.1387G>A
  • NM_001399891.1:c.1393G>A
  • NM_001399892.1:c.1384G>A
  • NM_001399893.1:c.1318G>A
  • NM_001399894.1:c.1393G>A
  • NM_001399895.1:c.1462G>A
  • NM_001399896.1:c.1393G>A
  • NM_001399897.1:c.1387G>A
  • NM_001399898.1:c.1387G>A
  • NM_001399899.1:c.1384G>A
  • NM_001399900.1:c.1384G>A
  • NM_001399901.1:c.1384G>A
  • NM_001399902.1:c.1384G>A
  • NM_001399903.1:c.1387G>A
  • NM_001399904.1:c.1216G>A
  • NM_001399905.1:c.1387G>A
  • NM_001399906.1:c.1387G>A
  • NM_001399907.1:c.1219G>A
  • NM_001399908.1:c.1318G>A
  • NM_001399909.1:c.1312G>A
  • NM_001399910.1:c.1387G>A
  • NM_001399911.1:c.1387G>A
  • NM_001399912.1:c.1387G>A
  • NM_001399913.1:c.1387G>A
  • NM_001399914.1:c.1387G>A
  • NM_001399915.1:c.1384G>A
  • NM_001399916.1:c.1228G>A
  • NM_001399917.1:c.1315G>A
  • NM_001399918.1:c.1219G>A
  • NM_001399919.1:c.1225G>A
  • NM_001399920.1:c.1318G>A
  • NM_001399921.1:c.1387G>A
  • NM_001399922.1:c.1315G>A
  • NM_001399923.1:c.1147G>A
  • NM_001399924.1:c.1144G>A
  • NM_001399925.1:c.1294G>A
  • NM_001399926.1:c.1318G>A
  • NM_001399927.1:c.1393G>A
  • NM_001399928.1:c.1219G>A
  • NM_001399929.1:c.1315G>A
  • NM_001399930.1:c.1312G>A
  • NM_001399931.1:c.1225G>A
  • NM_001399932.1:c.1393G>A
  • NM_001399933.1:c.1294G>A
  • NM_001399934.1:c.1387G>A
  • NM_001399935.1:c.1150G>A
  • NM_001399936.1:c.1150G>A
  • NM_001399937.1:c.1219G>A
  • NM_001399938.1:c.1240G>A
  • NM_001399939.1:c.1225G>A
  • NM_001399940.1:c.1225G>A
  • NM_001399941.1:c.1219G>A
  • NM_001399942.1:c.1219G>A
  • NM_001399943.1:c.1216G>A
  • NM_001399944.1:c.1240G>A
  • NM_001399945.1:c.1219G>A
  • NM_001399946.1:c.1225G>A
  • NM_001399947.1:c.1219G>A
  • NM_001399948.1:c.1219G>A
  • NM_001399949.1:c.1225G>A
  • NM_001399950.1:c.1150G>A
  • NM_001399952.1:c.1219G>A
  • NM_001399953.1:c.1150G>A
  • NM_001399954.1:c.1150G>A
  • NM_001399955.1:c.1078G>A
  • NM_001399956.1:c.1225G>A
  • NM_001399957.1:c.1219G>A
  • NM_001399958.1:c.1219G>A
  • NM_001399959.1:c.955G>A
  • NM_001399960.1:c.1150G>A
  • NM_001399961.1:c.1003G>A
  • NM_001399962.1:c.880G>A
  • NM_001399963.1:c.1150G>A
  • NM_001399964.1:c.1150G>A
  • NM_001399965.1:c.952G>A
  • NM_001399966.1:c.880G>A
  • NM_001399967.1:c.880G>A
  • NM_001399968.1:c.880G>A
  • NM_001399970.1:c.880G>A
  • NM_001399971.1:c.712G>A
  • NM_001399973.1:c.643G>A
  • NM_001399974.1:c.712G>A
  • NM_001399975.1:c.712G>A
  • NM_001399976.1:c.712G>A
  • NM_002384.3:c.1219G>A
  • NM_015844.3:c.1219G>A
  • NM_015845.4:c.1318G>A
  • NM_015846.4:c.1387G>AMANE SELECT
  • NM_015847.4:c.1240G>A
  • NP_001191065.1:p.Ala463Thr
  • NP_001191066.1:p.Ala488Thr
  • NP_001191067.1:p.Ala487Thr
  • NP_001191068.1:p.Ala463Thr
  • NP_001191069.1:p.Ala432Thr
  • NP_001191070.1:p.Ala413Thr
  • NP_001191071.1:p.Ala463Thr
  • NP_001191072.1:p.Ala407Thr
  • NP_001191080.1:p.Ala440Thr
  • NP_001310871.1:p.Ala488Thr
  • NP_001310876.1:p.Ala488Thr
  • NP_001310878.1:p.Ala319Thr
  • NP_001310879.1:p.Ala462Thr
  • NP_001310880.1:p.Ala463Thr
  • NP_001310881.1:p.Ala382Thr
  • NP_001310882.1:p.Ala271Thr
  • NP_001310883.1:p.Ala384Thr
  • NP_001375067.1:p.Ala463Thr
  • NP_001375068.1:p.Ala432Thr
  • NP_001375069.1:p.Ala488Thr
  • NP_001375070.1:p.Ala487Thr
  • NP_001375071.1:p.Ala432Thr
  • NP_001375072.1:p.Ala432Thr
  • NP_001375073.1:p.Ala407Thr
  • NP_001375074.1:p.Ala488Thr
  • NP_001375075.1:p.Ala488Thr
  • NP_001375076.1:p.Ala488Thr
  • NP_001375077.1:p.Ala463Thr
  • NP_001375078.1:p.Ala463Thr
  • NP_001375079.1:p.Ala488Thr
  • NP_001375080.1:p.Ala432Thr
  • NP_001375081.1:p.Ala488Thr
  • NP_001375082.1:p.Ala488Thr
  • NP_001375083.1:p.Ala488Thr
  • NP_001375084.1:p.Ala463Thr
  • NP_001375085.1:p.Ala432Thr
  • NP_001375086.1:p.Ala407Thr
  • NP_001375087.1:p.Ala488Thr
  • NP_001375088.1:p.Ala488Thr
  • NP_001375089.1:p.Ala488Thr
  • NP_001375090.1:p.Ala407Thr
  • NP_001375091.1:p.Ala463Thr
  • NP_001375092.1:p.Ala463Thr
  • NP_001375093.1:p.Ala432Thr
  • NP_001375094.1:p.Ala407Thr
  • NP_001375095.1:p.Ala432Thr
  • NP_001375096.1:p.Ala407Thr
  • NP_001386808.1:p.Ala465Thr
  • NP_001386809.1:p.Ala514Thr
  • NP_001386810.1:p.Ala462Thr
  • NP_001386811.1:p.Ala463Thr
  • NP_001386812.1:p.Ala487Thr
  • NP_001386813.1:p.Ala462Thr
  • NP_001386814.1:p.Ala462Thr
  • NP_001386815.1:p.Ala488Thr
  • NP_001386816.1:p.Ala438Thr
  • NP_001386817.1:p.Ala487Thr
  • NP_001386818.1:p.Ala488Thr
  • NP_001386819.1:p.Ala463Thr
  • NP_001386820.1:p.Ala465Thr
  • NP_001386821.1:p.Ala462Thr
  • NP_001386822.1:p.Ala440Thr
  • NP_001386823.1:p.Ala465Thr
  • NP_001386824.1:p.Ala488Thr
  • NP_001386825.1:p.Ala465Thr
  • NP_001386826.1:p.Ala463Thr
  • NP_001386827.1:p.Ala463Thr
  • NP_001386828.1:p.Ala462Thr
  • NP_001386829.1:p.Ala462Thr
  • NP_001386830.1:p.Ala462Thr
  • NP_001386831.1:p.Ala462Thr
  • NP_001386832.1:p.Ala463Thr
  • NP_001386833.1:p.Ala406Thr
  • NP_001386834.1:p.Ala463Thr
  • NP_001386835.1:p.Ala463Thr
  • NP_001386836.1:p.Ala407Thr
  • NP_001386837.1:p.Ala440Thr
  • NP_001386838.1:p.Ala438Thr
  • NP_001386839.1:p.Ala463Thr
  • NP_001386840.1:p.Ala463Thr
  • NP_001386841.1:p.Ala463Thr
  • NP_001386842.1:p.Ala463Thr
  • NP_001386843.1:p.Ala463Thr
  • NP_001386844.1:p.Ala462Thr
  • NP_001386845.1:p.Ala410Thr
  • NP_001386846.1:p.Ala439Thr
  • NP_001386847.1:p.Ala407Thr
  • NP_001386848.1:p.Ala409Thr
  • NP_001386849.1:p.Ala440Thr
  • NP_001386850.1:p.Ala463Thr
  • NP_001386851.1:p.Ala439Thr
  • NP_001386852.1:p.Ala383Thr
  • NP_001386853.1:p.Ala382Thr
  • NP_001386854.1:p.Ala432Thr
  • NP_001386855.1:p.Ala440Thr
  • NP_001386856.1:p.Ala465Thr
  • NP_001386857.1:p.Ala407Thr
  • NP_001386858.1:p.Ala439Thr
  • NP_001386859.1:p.Ala438Thr
  • NP_001386860.1:p.Ala409Thr
  • NP_001386861.1:p.Ala465Thr
  • NP_001386862.1:p.Ala432Thr
  • NP_001386863.1:p.Ala463Thr
  • NP_001386864.1:p.Ala384Thr
  • NP_001386865.1:p.Ala384Thr
  • NP_001386866.1:p.Ala407Thr
  • NP_001386867.1:p.Ala414Thr
  • NP_001386868.1:p.Ala409Thr
  • NP_001386869.1:p.Ala409Thr
  • NP_001386870.1:p.Ala407Thr
  • NP_001386871.1:p.Ala407Thr
  • NP_001386872.1:p.Ala406Thr
  • NP_001386873.1:p.Ala414Thr
  • NP_001386874.1:p.Ala407Thr
  • NP_001386875.1:p.Ala409Thr
  • NP_001386876.1:p.Ala407Thr
  • NP_001386877.1:p.Ala407Thr
  • NP_001386878.1:p.Ala409Thr
  • NP_001386879.1:p.Ala384Thr
  • NP_001386881.1:p.Ala407Thr
  • NP_001386882.1:p.Ala384Thr
  • NP_001386883.1:p.Ala384Thr
  • NP_001386884.1:p.Ala360Thr
  • NP_001386885.1:p.Ala409Thr
  • NP_001386886.1:p.Ala407Thr
  • NP_001386887.1:p.Ala407Thr
  • NP_001386888.1:p.Ala319Thr
  • NP_001386889.1:p.Ala384Thr
  • NP_001386890.1:p.Ala335Thr
  • NP_001386891.1:p.Ala294Thr
  • NP_001386892.1:p.Ala384Thr
  • NP_001386893.1:p.Ala384Thr
  • NP_001386894.1:p.Ala318Thr
  • NP_001386895.1:p.Ala294Thr
  • NP_001386896.1:p.Ala294Thr
  • NP_001386897.1:p.Ala294Thr
  • NP_001386899.1:p.Ala294Thr
  • NP_001386900.1:p.Ala238Thr
  • NP_001386902.1:p.Ala215Thr
  • NP_001386903.1:p.Ala238Thr
  • NP_001386904.1:p.Ala238Thr
  • NP_001386905.1:p.Ala238Thr
  • NP_002375.1:p.Ala407Thr
  • NP_056669.2:p.Ala407Thr
  • NP_056670.2:p.Ala440Thr
  • NP_056671.2:p.Ala463Thr
  • NP_056723.2:p.Ala414Thr
  • NC_000018.9:g.47799993C>T
  • NM_015846.3:c.1387G>A
Protein change:
A215T
Molecular consequence:
  • NM_001204136.2:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204137.2:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204138.2:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204139.2:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204140.2:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204141.2:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204142.2:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204143.2:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204151.3:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323942.2:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323947.2:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323949.2:c.955G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323950.2:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323951.2:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323952.2:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323953.2:c.811G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323954.2:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388138.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388139.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388140.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388141.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388142.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388143.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388144.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388145.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388146.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388147.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388148.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388149.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388150.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388151.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388152.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388153.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388154.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388155.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388156.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388157.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388158.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388159.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388160.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388161.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388162.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388163.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388164.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388165.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388166.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388167.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399879.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399880.1:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399881.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399882.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399883.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399884.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399885.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399886.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399887.1:c.1312G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399888.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399889.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399890.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399891.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399892.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399893.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399894.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399895.1:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399896.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399897.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399898.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399899.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399900.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399901.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399902.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399903.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399904.1:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399905.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399906.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399907.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399908.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399909.1:c.1312G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399910.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399911.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399912.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399913.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399914.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399915.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399916.1:c.1228G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399917.1:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399918.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399919.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399920.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399921.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399922.1:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399923.1:c.1147G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399924.1:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399925.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399926.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399927.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399928.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399929.1:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399930.1:c.1312G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399931.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399932.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399933.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399934.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399935.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399936.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399937.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399938.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399939.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399940.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399941.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399942.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399943.1:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399944.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399945.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399946.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399947.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399948.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399949.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399950.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399952.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399953.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399954.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399955.1:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399956.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399957.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399958.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399959.1:c.955G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399960.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399961.1:c.1003G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399962.1:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399963.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399964.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399965.1:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399966.1:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399967.1:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399968.1:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399970.1:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399971.1:c.712G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399973.1:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399974.1:c.712G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399975.1:c.712G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001399976.1:c.712G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002384.3:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015844.3:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015845.4:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015846.4:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015847.4:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004903429Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004903429.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1387G>A (p.A463T) alteration is located in exon 12 (coding exon 11) of the MBD1 gene. This alteration results from a G to A substitution at nucleotide position 1387, causing the alanine (A) at amino acid position 463 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024