The c.286C>T (p.R96W) alteration is located in exon 4 (coding exon 3) of the MBD1 gene. This alteration results from a C to T substitution at nucleotide position 286, causing the arginine (R) at amino acid position 96 to be replaced by a tryptophan (W). 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.286C>T (p.Arg96Trp)
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)
Help
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.286C>T (p.Arg96Trp)
Variation ID: 2366579 Accession: VCV002366579.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q21.1 18: 50276938 (GRCh38) [ NCBI UCSC ] 18: 47803308 (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 Feb 8, 2023 May 1, 2024 Nov 18, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015846.4:c.286C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_056671.2:p.Arg96Trp missense NM_001204136.2:c.286C>T NP_001191065.1:p.Arg96Trp missense NM_001204137.2:c.286C>T NP_001191066.1:p.Arg96Trp missense NM_001204138.2:c.286C>T NP_001191067.1:p.Arg96Trp missense NM_001204139.2:c.286C>T NP_001191068.1:p.Arg96Trp missense NM_001204140.2:c.286C>T NP_001191069.1:p.Arg96Trp missense NM_001204141.2:c.286C>T NP_001191070.1:p.Arg96Trp missense NM_001204142.2:c.286C>T NP_001191071.1:p.Arg96Trp missense NM_001204143.2:c.286C>T NP_001191072.1:p.Arg96Trp missense NM_001204151.3:c.286C>T NP_001191080.1:p.Arg96Trp missense NM_001323942.2:c.286C>T NP_001310871.1:p.Arg96Trp missense NM_001323947.2:c.286C>T NP_001310876.1:p.Arg96Trp missense NM_001323949.2:c.-222C>T 5 prime UTR NM_001323950.2:c.286C>T NP_001310879.1:p.Arg96Trp missense NM_001323951.2:c.286C>T NP_001310880.1:p.Arg96Trp missense NM_001323952.2:c.286C>T NP_001310881.1:p.Arg96Trp missense NM_001323953.2:c.-222C>T 5 prime UTR NM_001323954.2:c.286C>T NP_001310883.1:p.Arg96Trp missense NM_001388138.1:c.286C>T NP_001375067.1:p.Arg96Trp missense NM_001388139.1:c.286C>T NP_001375068.1:p.Arg96Trp missense NM_001388140.1:c.286C>T NP_001375069.1:p.Arg96Trp missense NM_001388141.1:c.286C>T NP_001375070.1:p.Arg96Trp missense NM_001388142.1:c.286C>T NP_001375071.1:p.Arg96Trp missense NM_001388143.1:c.286C>T NP_001375072.1:p.Arg96Trp missense NM_001388144.1:c.286C>T NP_001375073.1:p.Arg96Trp missense NM_001388145.1:c.286C>T NP_001375074.1:p.Arg96Trp missense NM_001388146.1:c.286C>T NP_001375075.1:p.Arg96Trp missense NM_001388147.1:c.286C>T NP_001375076.1:p.Arg96Trp missense NM_001388148.1:c.286C>T NP_001375077.1:p.Arg96Trp missense NM_001388149.1:c.286C>T NP_001375078.1:p.Arg96Trp missense NM_001388150.1:c.286C>T NP_001375079.1:p.Arg96Trp missense NM_001388151.1:c.286C>T NP_001375080.1:p.Arg96Trp missense NM_001388152.1:c.286C>T NP_001375081.1:p.Arg96Trp missense NM_001388153.1:c.286C>T NP_001375082.1:p.Arg96Trp missense NM_001388154.1:c.286C>T NP_001375083.1:p.Arg96Trp missense NM_001388155.1:c.286C>T NP_001375084.1:p.Arg96Trp missense NM_001388156.1:c.286C>T NP_001375085.1:p.Arg96Trp missense NM_001388157.1:c.286C>T NP_001375086.1:p.Arg96Trp missense NM_001388158.1:c.286C>T NP_001375087.1:p.Arg96Trp missense NM_001388159.1:c.286C>T NP_001375088.1:p.Arg96Trp missense NM_001388160.1:c.286C>T NP_001375089.1:p.Arg96Trp missense NM_001388161.1:c.286C>T NP_001375090.1:p.Arg96Trp missense NM_001388162.1:c.286C>T NP_001375091.1:p.Arg96Trp missense NM_001388163.1:c.286C>T NP_001375092.1:p.Arg96Trp missense NM_001388164.1:c.286C>T NP_001375093.1:p.Arg96Trp missense NM_001388165.1:c.286C>T NP_001375094.1:p.Arg96Trp missense NM_001388166.1:c.286C>T NP_001375095.1:p.Arg96Trp missense NM_001388167.1:c.286C>T NP_001375096.1:p.Arg96Trp missense NM_001399879.1:c.286C>T NP_001386808.1:p.Arg96Trp missense NM_001399880.1:c.364C>T NP_001386809.1:p.Arg122Trp missense NM_001399881.1:c.286C>T NP_001386810.1:p.Arg96Trp missense NM_001399882.1:c.286C>T NP_001386811.1:p.Arg96Trp missense NM_001399883.1:c.286C>T NP_001386812.1:p.Arg96Trp missense NM_001399884.1:c.286C>T NP_001386813.1:p.Arg96Trp missense NM_001399885.1:c.286C>T NP_001386814.1:p.Arg96Trp missense NM_001399886.1:c.286C>T NP_001386815.1:p.Arg96Trp missense NM_001399887.1:c.286C>T NP_001386816.1:p.Arg96Trp missense NM_001399888.1:c.286C>T NP_001386817.1:p.Arg96Trp missense NM_001399889.1:c.286C>T NP_001386818.1:p.Arg96Trp missense NM_001399890.1:c.286C>T NP_001386819.1:p.Arg96Trp missense NM_001399891.1:c.286C>T NP_001386820.1:p.Arg96Trp missense NM_001399892.1:c.286C>T NP_001386821.1:p.Arg96Trp missense NM_001399893.1:c.286C>T NP_001386822.1:p.Arg96Trp missense NM_001399894.1:c.286C>T NP_001386823.1:p.Arg96Trp missense NM_001399895.1:c.286C>T NP_001386824.1:p.Arg96Trp missense NM_001399896.1:c.286C>T NP_001386825.1:p.Arg96Trp missense NM_001399897.1:c.286C>T NP_001386826.1:p.Arg96Trp missense NM_001399898.1:c.286C>T NP_001386827.1:p.Arg96Trp missense NM_001399899.1:c.286C>T NP_001386828.1:p.Arg96Trp missense NM_001399900.1:c.286C>T NP_001386829.1:p.Arg96Trp missense NM_001399901.1:c.286C>T NP_001386830.1:p.Arg96Trp missense NM_001399902.1:c.286C>T NP_001386831.1:p.Arg96Trp missense NM_001399903.1:c.286C>T NP_001386832.1:p.Arg96Trp missense NM_001399904.1:c.286C>T NP_001386833.1:p.Arg96Trp missense NM_001399905.1:c.286C>T NP_001386834.1:p.Arg96Trp missense NM_001399906.1:c.286C>T NP_001386835.1:p.Arg96Trp missense NM_001399907.1:c.286C>T NP_001386836.1:p.Arg96Trp missense NM_001399908.1:c.286C>T NP_001386837.1:p.Arg96Trp missense NM_001399909.1:c.286C>T NP_001386838.1:p.Arg96Trp missense NM_001399910.1:c.286C>T NP_001386839.1:p.Arg96Trp missense NM_001399911.1:c.286C>T NP_001386840.1:p.Arg96Trp missense NM_001399912.1:c.286C>T NP_001386841.1:p.Arg96Trp missense NM_001399913.1:c.286C>T NP_001386842.1:p.Arg96Trp missense NM_001399914.1:c.286C>T NP_001386843.1:p.Arg96Trp missense NM_001399915.1:c.286C>T NP_001386844.1:p.Arg96Trp missense NM_001399916.1:c.364C>T NP_001386845.1:p.Arg122Trp missense NM_001399917.1:c.286C>T NP_001386846.1:p.Arg96Trp missense NM_001399918.1:c.286C>T NP_001386847.1:p.Arg96Trp missense NM_001399919.1:c.286C>T NP_001386848.1:p.Arg96Trp missense NM_001399920.1:c.286C>T NP_001386849.1:p.Arg96Trp missense NM_001399921.1:c.286C>T NP_001386850.1:p.Arg96Trp missense NM_001399922.1:c.286C>T NP_001386851.1:p.Arg96Trp missense NM_001399923.1:c.286C>T NP_001386852.1:p.Arg96Trp missense NM_001399924.1:c.286C>T NP_001386853.1:p.Arg96Trp missense NM_001399925.1:c.286C>T NP_001386854.1:p.Arg96Trp missense NM_001399926.1:c.286C>T NP_001386855.1:p.Arg96Trp missense NM_001399927.1:c.286C>T NP_001386856.1:p.Arg96Trp missense NM_001399928.1:c.286C>T NP_001386857.1:p.Arg96Trp missense NM_001399929.1:c.286C>T NP_001386858.1:p.Arg96Trp missense NM_001399930.1:c.286C>T NP_001386859.1:p.Arg96Trp missense NM_001399931.1:c.286C>T NP_001386860.1:p.Arg96Trp missense NM_001399932.1:c.286C>T NP_001386861.1:p.Arg96Trp missense NM_001399933.1:c.286C>T NP_001386862.1:p.Arg96Trp missense NM_001399934.1:c.286C>T NP_001386863.1:p.Arg96Trp missense NM_001399935.1:c.286C>T NP_001386864.1:p.Arg96Trp missense NM_001399936.1:c.286C>T NP_001386865.1:p.Arg96Trp missense NM_001399937.1:c.286C>T NP_001386866.1:p.Arg96Trp missense NM_001399938.1:c.286C>T NP_001386867.1:p.Arg96Trp missense NM_001399939.1:c.286C>T NP_001386868.1:p.Arg96Trp missense NM_001399940.1:c.286C>T NP_001386869.1:p.Arg96Trp missense NM_001399941.1:c.286C>T NP_001386870.1:p.Arg96Trp missense NM_001399942.1:c.286C>T NP_001386871.1:p.Arg96Trp missense NM_001399943.1:c.286C>T NP_001386872.1:p.Arg96Trp missense NM_001399944.1:c.286C>T NP_001386873.1:p.Arg96Trp missense NM_001399945.1:c.286C>T NP_001386874.1:p.Arg96Trp missense NM_001399946.1:c.286C>T NP_001386875.1:p.Arg96Trp missense NM_001399947.1:c.286C>T NP_001386876.1:p.Arg96Trp missense NM_001399948.1:c.286C>T NP_001386877.1:p.Arg96Trp missense NM_001399949.1:c.286C>T NP_001386878.1:p.Arg96Trp missense NM_001399950.1:c.286C>T NP_001386879.1:p.Arg96Trp missense NM_001399952.1:c.286C>T NP_001386881.1:p.Arg96Trp missense NM_001399953.1:c.286C>T NP_001386882.1:p.Arg96Trp missense NM_001399954.1:c.286C>T NP_001386883.1:p.Arg96Trp missense NM_001399955.1:c.286C>T NP_001386884.1:p.Arg96Trp missense NM_001399956.1:c.286C>T NP_001386885.1:p.Arg96Trp missense NM_001399957.1:c.286C>T NP_001386886.1:p.Arg96Trp missense NM_001399958.1:c.286C>T NP_001386887.1:p.Arg96Trp missense NM_001399959.1:c.-222C>T 5 prime UTR NM_001399960.1:c.286C>T NP_001386889.1:p.Arg96Trp missense NM_001399961.1:c.286C>T NP_001386890.1:p.Arg96Trp missense NM_001399962.1:c.-222C>T 5 prime UTR NM_001399963.1:c.286C>T NP_001386892.1:p.Arg96Trp missense NM_001399964.1:c.286C>T NP_001386893.1:p.Arg96Trp missense NM_001399965.1:c.-222C>T 5 prime UTR NM_001399966.1:c.-222C>T 5 prime UTR NM_001399967.1:c.-222C>T 5 prime UTR NM_001399968.1:c.-222C>T 5 prime UTR NM_001399970.1:c.-222C>T 5 prime UTR NM_001399971.1:c.-222C>T 5 prime UTR NM_001399973.1:c.-222C>T 5 prime UTR NM_001399974.1:c.-222C>T 5 prime UTR NM_001399975.1:c.-222C>T 5 prime UTR NM_001399976.1:c.-222C>T 5 prime UTR NM_002384.3:c.286C>T NP_002375.1:p.Arg96Trp missense NM_015844.3:c.286C>T NP_056669.2:p.Arg96Trp missense NM_015845.4:c.286C>T NP_056670.2:p.Arg96Trp missense NM_015847.4:c.286C>T NP_056723.2:p.Arg96Trp missense NC_000018.10:g.50276938G>A NC_000018.9:g.47803308G>A NG_029505.1:g.9837C>T - Protein change
- R122W, R96W
- Other names
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- Canonical SPDI
- NC_000018.10:50276937:G:A
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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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Nov 18, 2022 | RCV004206957.1 |
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
(Nov 18, 2022)
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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: SCV003708358.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.286C>T (p.R96W) alteration is located in exon 4 (coding exon 3) of the MBD1 gene. This alteration results from a C to T substitution … (more)
The c.286C>T (p.R96W) alteration is located in exon 4 (coding exon 3) of the MBD1 gene. This alteration results from a C to T substitution at nucleotide position 286, causing the arginine (R) at amino acid position 96 to be replaced by a tryptophan (W). 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.286C>T (p.R96W) alteration is located in exon 4 (coding exon 3) of the MBD1 gene. This alteration results from a C to T substitution at nucleotide position 286, causing the arginine (R) at amino acid position 96 to be replaced by a tryptophan (W). 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 Nov 10, 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.