The c.1304C>T (p.T435I) alteration is located in exon 12 (coding exon 11) of the MBD1 gene. This alteration results from a C to T substitution at nucleotide position 1304, causing the threonine (T) at amino acid position 435 to be replaced by an isoleucine (I). 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.1304C>T (p.Thr435Ile)
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.
(3)
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.
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(2)
Uncertain significance(1); Benign(2)
3
criteria provided, conflicting classifications
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.1304C>T (p.Thr435Ile)
Variation ID: 1339508 Accession: VCV001339508.5
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q21.1 18: 50273706 (GRCh38) [ NCBI UCSC ] 18: 47800076 (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 10, 2022 Sep 29, 2024 Jul 9, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015846.4:c.1304C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_056671.2:p.Thr435Ile missense NM_001204136.2:c.1304C>T NP_001191065.1:p.Thr435Ile missense NM_001204137.2:c.1379C>T NP_001191066.1:p.Thr460Ile missense NM_001204138.2:c.1376C>T NP_001191067.1:p.Thr459Ile missense NM_001204139.2:c.1304C>T NP_001191068.1:p.Thr435Ile missense NM_001204140.2:c.1211C>T NP_001191069.1:p.Thr404Ile missense NM_001204141.2:c.1154C>T NP_001191070.1:p.Thr385Ile missense NM_001204142.2:c.1304C>T NP_001191071.1:p.Thr435Ile missense NM_001204143.2:c.1136C>T NP_001191072.1:p.Thr379Ile missense NM_001204151.3:c.1235C>T NP_001191080.1:p.Thr412Ile missense NM_001323942.2:c.1379C>T NP_001310871.1:p.Thr460Ile missense NM_001323947.2:c.1379C>T NP_001310876.1:p.Thr460Ile missense NM_001323949.2:c.872C>T NP_001310878.1:p.Thr291Ile missense NM_001323950.2:c.1301C>T NP_001310879.1:p.Thr434Ile missense NM_001323951.2:c.1304C>T NP_001310880.1:p.Thr435Ile missense NM_001323952.2:c.1061C>T NP_001310881.1:p.Thr354Ile missense NM_001323953.2:c.728C>T NP_001310882.1:p.Thr243Ile missense NM_001323954.2:c.1067C>T NP_001310883.1:p.Thr356Ile missense NM_001388138.1:c.1304C>T NP_001375067.1:p.Thr435Ile missense NM_001388139.1:c.1211C>T NP_001375068.1:p.Thr404Ile missense NM_001388140.1:c.1379C>T NP_001375069.1:p.Thr460Ile missense NM_001388141.1:c.1376C>T NP_001375070.1:p.Thr459Ile missense NM_001388142.1:c.1211C>T NP_001375071.1:p.Thr404Ile missense NM_001388143.1:c.1211C>T NP_001375072.1:p.Thr404Ile missense NM_001388144.1:c.1136C>T NP_001375073.1:p.Thr379Ile missense NM_001388145.1:c.1379C>T NP_001375074.1:p.Thr460Ile missense NM_001388146.1:c.1379C>T NP_001375075.1:p.Thr460Ile missense NM_001388147.1:c.1379C>T NP_001375076.1:p.Thr460Ile missense NM_001388148.1:c.1304C>T NP_001375077.1:p.Thr435Ile missense NM_001388149.1:c.1304C>T NP_001375078.1:p.Thr435Ile missense NM_001388150.1:c.1379C>T NP_001375079.1:p.Thr460Ile missense NM_001388151.1:c.1211C>T NP_001375080.1:p.Thr404Ile missense NM_001388152.1:c.1379C>T NP_001375081.1:p.Thr460Ile missense NM_001388153.1:c.1379C>T NP_001375082.1:p.Thr460Ile missense NM_001388154.1:c.1379C>T NP_001375083.1:p.Thr460Ile missense NM_001388155.1:c.1304C>T NP_001375084.1:p.Thr435Ile missense NM_001388156.1:c.1211C>T NP_001375085.1:p.Thr404Ile missense NM_001388157.1:c.1136C>T NP_001375086.1:p.Thr379Ile missense NM_001388158.1:c.1379C>T NP_001375087.1:p.Thr460Ile missense NM_001388159.1:c.1379C>T NP_001375088.1:p.Thr460Ile missense NM_001388160.1:c.1379C>T NP_001375089.1:p.Thr460Ile missense NM_001388161.1:c.1136C>T NP_001375090.1:p.Thr379Ile missense NM_001388162.1:c.1304C>T NP_001375091.1:p.Thr435Ile missense NM_001388163.1:c.1304C>T NP_001375092.1:p.Thr435Ile missense NM_001388164.1:c.1211C>T NP_001375093.1:p.Thr404Ile missense NM_001388165.1:c.1136C>T NP_001375094.1:p.Thr379Ile missense NM_001388166.1:c.1211C>T NP_001375095.1:p.Thr404Ile missense NM_001388167.1:c.1136C>T NP_001375096.1:p.Thr379Ile missense NM_002384.3:c.1136C>T NP_002375.1:p.Thr379Ile missense NM_015844.3:c.1136C>T NP_056669.2:p.Thr379Ile missense NM_015845.4:c.1235C>T NP_056670.2:p.Thr412Ile missense NM_015846.3:c.1304C>T NM_015847.4:c.1157C>T NP_056723.2:p.Thr386Ile missense NC_000018.10:g.50273706G>A NC_000018.9:g.47800076G>A NG_029505.1:g.13069C>T - Protein change
- T243I, T291I, T354I, T356I, T379I, T385I, T386I, T404I, T412I, T434I, T435I, T459I, T460I
- Other names
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- Canonical SPDI
- NC_000018.10:50273705: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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0.00080 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
The Genome Aggregation Database (gnomAD) 0.00035
Exome Aggregation Consortium (ExAC) 0.00039
Trans-Omics for Precision Medicine (TOPMed) 0.00042
1000 Genomes Project 30x 0.00062
1000 Genomes Project 0.00080
- 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. |
|||
| 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. |
|---|---|---|---|---|
| Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Jul 9, 2021 | RCV001824217.2 | |
| Benign (1) |
criteria provided, single submitter
|
- | RCV004710386.1 |
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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|---|---|---|---|---|---|
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Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
Accession: SCV002073832.1
First in ClinVar: Feb 10, 2022 Last updated: Feb 10, 2022 |
Number of individuals with the variant: 231
Ethnicity/Population group: Arab
Geographic origin: Middle East
|
|
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Uncertain significance
(Jul 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003566435.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.1304C>T (p.T435I) alteration is located in exon 12 (coding exon 11) of the MBD1 gene. This alteration results from a C to T substitution … (more)
The c.1304C>T (p.T435I) alteration is located in exon 12 (coding exon 11) of the MBD1 gene. This alteration results from a C to T substitution at nucleotide position 1304, causing the threonine (T) at amino acid position 435 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
|
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Benign
(-)
|
criteria provided, single submitter
Method: not provided
|
not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
|
Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005250802.1
First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024 |
|
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.1304C>T (p.T435I) alteration is located in exon 12 (coding exon 11) of the MBD1 gene. This alteration results from a C to T substitution at nucleotide position 1304, causing the threonine (T) at amino acid position 435 to be replaced by an isoleucine (I). 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 rs116201949 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 25, 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.