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.
ClinVar Genomic variation as it relates to human health
NM_015846.4(MBD1):c.1387G>A (p.Ala463Thr)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_015846.4(MBD1):c.1387G>A (p.Ala463Thr)
Variation ID: 3124028 Accession: VCV003124028.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q21.1 18: 50273623 (GRCh38) [ NCBI UCSC ] 18: 47799993 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 1, 2024 May 1, 2024 Feb 28, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015846.4:c.1387G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_056671.2:p.Ala463Thr missense NM_001204136.2:c.1387G>A NP_001191065.1:p.Ala463Thr missense NM_001204137.2:c.1462G>A NP_001191066.1:p.Ala488Thr missense NM_001204138.2:c.1459G>A NP_001191067.1:p.Ala487Thr missense NM_001204139.2:c.1387G>A NP_001191068.1:p.Ala463Thr missense NM_001204140.2:c.1294G>A NP_001191069.1:p.Ala432Thr missense NM_001204141.2:c.1237G>A NP_001191070.1:p.Ala413Thr missense NM_001204142.2:c.1387G>A NP_001191071.1:p.Ala463Thr missense NM_001204143.2:c.1219G>A NP_001191072.1:p.Ala407Thr missense NM_001204151.3:c.1318G>A NP_001191080.1:p.Ala440Thr missense NM_001323942.2:c.1462G>A NP_001310871.1:p.Ala488Thr missense NM_001323947.2:c.1462G>A NP_001310876.1:p.Ala488Thr missense NM_001323949.2:c.955G>A NP_001310878.1:p.Ala319Thr missense NM_001323950.2:c.1384G>A NP_001310879.1:p.Ala462Thr missense NM_001323951.2:c.1387G>A NP_001310880.1:p.Ala463Thr missense NM_001323952.2:c.1144G>A NP_001310881.1:p.Ala382Thr missense NM_001323953.2:c.811G>A NP_001310882.1:p.Ala271Thr missense NM_001323954.2:c.1150G>A NP_001310883.1:p.Ala384Thr missense NM_001388138.1:c.1387G>A NP_001375067.1:p.Ala463Thr missense NM_001388139.1:c.1294G>A NP_001375068.1:p.Ala432Thr missense NM_001388140.1:c.1462G>A NP_001375069.1:p.Ala488Thr missense NM_001388141.1:c.1459G>A NP_001375070.1:p.Ala487Thr missense NM_001388142.1:c.1294G>A NP_001375071.1:p.Ala432Thr missense NM_001388143.1:c.1294G>A NP_001375072.1:p.Ala432Thr missense NM_001388144.1:c.1219G>A NP_001375073.1:p.Ala407Thr missense NM_001388145.1:c.1462G>A NP_001375074.1:p.Ala488Thr missense NM_001388146.1:c.1462G>A NP_001375075.1:p.Ala488Thr missense NM_001388147.1:c.1462G>A NP_001375076.1:p.Ala488Thr missense NM_001388148.1:c.1387G>A NP_001375077.1:p.Ala463Thr missense NM_001388149.1:c.1387G>A NP_001375078.1:p.Ala463Thr missense NM_001388150.1:c.1462G>A NP_001375079.1:p.Ala488Thr missense NM_001388151.1:c.1294G>A NP_001375080.1:p.Ala432Thr missense NM_001388152.1:c.1462G>A NP_001375081.1:p.Ala488Thr missense NM_001388153.1:c.1462G>A NP_001375082.1:p.Ala488Thr missense NM_001388154.1:c.1462G>A NP_001375083.1:p.Ala488Thr missense NM_001388155.1:c.1387G>A NP_001375084.1:p.Ala463Thr missense NM_001388156.1:c.1294G>A NP_001375085.1:p.Ala432Thr missense NM_001388157.1:c.1219G>A NP_001375086.1:p.Ala407Thr missense NM_001388158.1:c.1462G>A NP_001375087.1:p.Ala488Thr missense NM_001388159.1:c.1462G>A NP_001375088.1:p.Ala488Thr missense NM_001388160.1:c.1462G>A NP_001375089.1:p.Ala488Thr missense NM_001388161.1:c.1219G>A NP_001375090.1:p.Ala407Thr missense NM_001388162.1:c.1387G>A NP_001375091.1:p.Ala463Thr missense NM_001388163.1:c.1387G>A NP_001375092.1:p.Ala463Thr missense NM_001388164.1:c.1294G>A NP_001375093.1:p.Ala432Thr missense NM_001388165.1:c.1219G>A NP_001375094.1:p.Ala407Thr missense NM_001388166.1:c.1294G>A NP_001375095.1:p.Ala432Thr missense NM_001388167.1:c.1219G>A NP_001375096.1:p.Ala407Thr missense NM_001399879.1:c.1393G>A NP_001386808.1:p.Ala465Thr missense NM_001399880.1:c.1540G>A NP_001386809.1:p.Ala514Thr missense NM_001399881.1:c.1384G>A NP_001386810.1:p.Ala462Thr missense NM_001399882.1:c.1387G>A NP_001386811.1:p.Ala463Thr missense NM_001399883.1:c.1459G>A NP_001386812.1:p.Ala487Thr missense NM_001399884.1:c.1384G>A NP_001386813.1:p.Ala462Thr missense NM_001399885.1:c.1384G>A NP_001386814.1:p.Ala462Thr missense NM_001399886.1:c.1462G>A NP_001386815.1:p.Ala488Thr missense NM_001399887.1:c.1312G>A NP_001386816.1:p.Ala438Thr missense NM_001399888.1:c.1459G>A NP_001386817.1:p.Ala487Thr missense NM_001399889.1:c.1462G>A NP_001386818.1:p.Ala488Thr missense NM_001399890.1:c.1387G>A NP_001386819.1:p.Ala463Thr missense NM_001399891.1:c.1393G>A NP_001386820.1:p.Ala465Thr missense NM_001399892.1:c.1384G>A NP_001386821.1:p.Ala462Thr missense NM_001399893.1:c.1318G>A NP_001386822.1:p.Ala440Thr missense NM_001399894.1:c.1393G>A NP_001386823.1:p.Ala465Thr missense NM_001399895.1:c.1462G>A NP_001386824.1:p.Ala488Thr missense NM_001399896.1:c.1393G>A NP_001386825.1:p.Ala465Thr missense NM_001399897.1:c.1387G>A NP_001386826.1:p.Ala463Thr missense NM_001399898.1:c.1387G>A NP_001386827.1:p.Ala463Thr missense NM_001399899.1:c.1384G>A NP_001386828.1:p.Ala462Thr missense NM_001399900.1:c.1384G>A NP_001386829.1:p.Ala462Thr missense NM_001399901.1:c.1384G>A NP_001386830.1:p.Ala462Thr missense NM_001399902.1:c.1384G>A NP_001386831.1:p.Ala462Thr missense NM_001399903.1:c.1387G>A NP_001386832.1:p.Ala463Thr missense NM_001399904.1:c.1216G>A NP_001386833.1:p.Ala406Thr missense NM_001399905.1:c.1387G>A NP_001386834.1:p.Ala463Thr missense NM_001399906.1:c.1387G>A NP_001386835.1:p.Ala463Thr missense NM_001399907.1:c.1219G>A NP_001386836.1:p.Ala407Thr missense NM_001399908.1:c.1318G>A NP_001386837.1:p.Ala440Thr missense NM_001399909.1:c.1312G>A NP_001386838.1:p.Ala438Thr missense NM_001399910.1:c.1387G>A NP_001386839.1:p.Ala463Thr missense NM_001399911.1:c.1387G>A NP_001386840.1:p.Ala463Thr missense NM_001399912.1:c.1387G>A NP_001386841.1:p.Ala463Thr missense NM_001399913.1:c.1387G>A NP_001386842.1:p.Ala463Thr missense NM_001399914.1:c.1387G>A NP_001386843.1:p.Ala463Thr missense NM_001399915.1:c.1384G>A NP_001386844.1:p.Ala462Thr missense NM_001399916.1:c.1228G>A NP_001386845.1:p.Ala410Thr missense NM_001399917.1:c.1315G>A NP_001386846.1:p.Ala439Thr missense NM_001399918.1:c.1219G>A NP_001386847.1:p.Ala407Thr missense NM_001399919.1:c.1225G>A NP_001386848.1:p.Ala409Thr missense NM_001399920.1:c.1318G>A NP_001386849.1:p.Ala440Thr missense NM_001399921.1:c.1387G>A NP_001386850.1:p.Ala463Thr missense NM_001399922.1:c.1315G>A NP_001386851.1:p.Ala439Thr missense NM_001399923.1:c.1147G>A NP_001386852.1:p.Ala383Thr missense NM_001399924.1:c.1144G>A NP_001386853.1:p.Ala382Thr missense NM_001399925.1:c.1294G>A NP_001386854.1:p.Ala432Thr missense NM_001399926.1:c.1318G>A NP_001386855.1:p.Ala440Thr missense NM_001399927.1:c.1393G>A NP_001386856.1:p.Ala465Thr missense NM_001399928.1:c.1219G>A NP_001386857.1:p.Ala407Thr missense NM_001399929.1:c.1315G>A NP_001386858.1:p.Ala439Thr missense NM_001399930.1:c.1312G>A NP_001386859.1:p.Ala438Thr missense NM_001399931.1:c.1225G>A NP_001386860.1:p.Ala409Thr missense NM_001399932.1:c.1393G>A NP_001386861.1:p.Ala465Thr missense NM_001399933.1:c.1294G>A NP_001386862.1:p.Ala432Thr missense NM_001399934.1:c.1387G>A NP_001386863.1:p.Ala463Thr missense NM_001399935.1:c.1150G>A NP_001386864.1:p.Ala384Thr missense NM_001399936.1:c.1150G>A NP_001386865.1:p.Ala384Thr missense NM_001399937.1:c.1219G>A NP_001386866.1:p.Ala407Thr missense NM_001399938.1:c.1240G>A NP_001386867.1:p.Ala414Thr missense NM_001399939.1:c.1225G>A NP_001386868.1:p.Ala409Thr missense NM_001399940.1:c.1225G>A NP_001386869.1:p.Ala409Thr missense NM_001399941.1:c.1219G>A NP_001386870.1:p.Ala407Thr missense NM_001399942.1:c.1219G>A NP_001386871.1:p.Ala407Thr missense NM_001399943.1:c.1216G>A NP_001386872.1:p.Ala406Thr missense NM_001399944.1:c.1240G>A NP_001386873.1:p.Ala414Thr missense NM_001399945.1:c.1219G>A NP_001386874.1:p.Ala407Thr missense NM_001399946.1:c.1225G>A NP_001386875.1:p.Ala409Thr missense NM_001399947.1:c.1219G>A NP_001386876.1:p.Ala407Thr missense NM_001399948.1:c.1219G>A NP_001386877.1:p.Ala407Thr missense NM_001399949.1:c.1225G>A NP_001386878.1:p.Ala409Thr missense NM_001399950.1:c.1150G>A NP_001386879.1:p.Ala384Thr missense NM_001399952.1:c.1219G>A NP_001386881.1:p.Ala407Thr missense NM_001399953.1:c.1150G>A NP_001386882.1:p.Ala384Thr missense NM_001399954.1:c.1150G>A NP_001386883.1:p.Ala384Thr missense NM_001399955.1:c.1078G>A NP_001386884.1:p.Ala360Thr missense NM_001399956.1:c.1225G>A NP_001386885.1:p.Ala409Thr missense NM_001399957.1:c.1219G>A NP_001386886.1:p.Ala407Thr missense NM_001399958.1:c.1219G>A NP_001386887.1:p.Ala407Thr missense NM_001399959.1:c.955G>A NP_001386888.1:p.Ala319Thr missense NM_001399960.1:c.1150G>A NP_001386889.1:p.Ala384Thr missense NM_001399961.1:c.1003G>A NP_001386890.1:p.Ala335Thr missense NM_001399962.1:c.880G>A NP_001386891.1:p.Ala294Thr missense NM_001399963.1:c.1150G>A NP_001386892.1:p.Ala384Thr missense NM_001399964.1:c.1150G>A NP_001386893.1:p.Ala384Thr missense NM_001399965.1:c.952G>A NP_001386894.1:p.Ala318Thr missense NM_001399966.1:c.880G>A NP_001386895.1:p.Ala294Thr missense NM_001399967.1:c.880G>A NP_001386896.1:p.Ala294Thr missense NM_001399968.1:c.880G>A NP_001386897.1:p.Ala294Thr missense NM_001399970.1:c.880G>A NP_001386899.1:p.Ala294Thr missense NM_001399971.1:c.712G>A NP_001386900.1:p.Ala238Thr missense NM_001399973.1:c.643G>A NP_001386902.1:p.Ala215Thr missense NM_001399974.1:c.712G>A NP_001386903.1:p.Ala238Thr missense NM_001399975.1:c.712G>A NP_001386904.1:p.Ala238Thr missense NM_001399976.1:c.712G>A NP_001386905.1:p.Ala238Thr missense NM_002384.3:c.1219G>A NP_002375.1:p.Ala407Thr missense NM_015844.3:c.1219G>A NP_056669.2:p.Ala407Thr missense NM_015845.4:c.1318G>A NP_056670.2:p.Ala440Thr missense NM_015847.4:c.1240G>A NP_056723.2:p.Ala414Thr missense NC_000018.10:g.50273623C>T NC_000018.9:g.47799993C>T NG_029505.1:g.13152G>A - Protein change
- A215T, A238T, A383T, A406T, A407T, A409T, A410T, A440T, A487T, A514T, A335T, A414T, A462T, A465T, A318T, A319T, A360T, A384T, A413T, A438T, A439T, A488T, A271T, A294T, A382T, A432T, A463T
- Other names
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- Canonical SPDI
- NC_000018.10:50273622:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| MBD1 | - | - |
GRCh38 GRCh37 |
39 | 80 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Feb 28, 2024 | RCV004416834.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Feb 28, 2024)
|
criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004903429.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
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 … (more)
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. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
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.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.