The c.2462A>T (p.D821V) alteration is located in exon 14 (coding exon 13) of the MADD gene. This alteration results from a A to T substitution at nucleotide position 2462, causing the aspartic acid (D) at amino acid position 821 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001376571.1(MADD):c.2462A>T (p.Asp821Val)
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_001376571.1(MADD):c.2462A>T (p.Asp821Val)
Variation ID: 3292552 Accession: VCV003292552.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47285501 (GRCh38) [ NCBI UCSC ] 11: 47307052 (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 Aug 11, 2024 Aug 11, 2024 Apr 26, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001376571.1:c.2462A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Asp821Val missense NM_001135943.2:c.2333A>T NP_001129415.1:p.Asp778Val missense NM_001135944.2:c.2333A>T NP_001129416.1:p.Asp778Val missense NM_001376572.1:c.2462A>T NP_001363501.1:p.Asp821Val missense NM_001376573.1:c.2462A>T NP_001363502.1:p.Asp821Val missense NM_001376574.1:c.2462A>T NP_001363503.1:p.Asp821Val missense NM_001376575.1:c.2462A>T NP_001363504.1:p.Asp821Val missense NM_001376576.1:c.2462A>T NP_001363505.1:p.Asp821Val missense NM_001376577.1:c.2462A>T NP_001363506.1:p.Asp821Val missense NM_001376578.1:c.2435A>T NP_001363507.1:p.Asp812Val missense NM_001376579.1:c.2462A>T NP_001363508.1:p.Asp821Val missense NM_001376580.1:c.2462A>T NP_001363509.1:p.Asp821Val missense NM_001376581.1:c.2333A>T NP_001363510.1:p.Asp778Val missense NM_001376582.1:c.2333A>T NP_001363511.1:p.Asp778Val missense NM_001376583.1:c.2462A>T NP_001363512.1:p.Asp821Val missense NM_001376584.1:c.2462A>T NP_001363513.1:p.Asp821Val missense NM_001376585.1:c.2333A>T NP_001363514.1:p.Asp778Val missense NM_001376586.1:c.2333A>T NP_001363515.1:p.Asp778Val missense NM_001376593.1:c.2462A>T NP_001363522.1:p.Asp821Val missense NM_001376594.1:c.2462A>T NP_001363523.1:p.Asp821Val missense NM_001376595.1:c.2333A>T NP_001363524.1:p.Asp778Val missense NM_001376596.1:c.2462A>T NP_001363525.1:p.Asp821Val missense NM_001376597.1:c.2333A>T NP_001363526.1:p.Asp778Val missense NM_001376598.1:c.2333A>T NP_001363527.1:p.Asp778Val missense NM_001376599.1:c.2462A>T NP_001363528.1:p.Asp821Val missense NM_001376600.1:c.2462A>T NP_001363529.1:p.Asp821Val missense NM_001376601.1:c.2462A>T NP_001363530.1:p.Asp821Val missense NM_001376602.1:c.2309A>T NP_001363531.1:p.Asp770Val missense NM_001376603.1:c.2333A>T NP_001363532.1:p.Asp778Val missense NM_001376604.1:c.2333A>T NP_001363533.1:p.Asp778Val missense NM_001376605.1:c.2462A>T NP_001363534.1:p.Asp821Val missense NM_001376606.1:c.2462A>T NP_001363535.1:p.Asp821Val missense NM_001376607.1:c.2333A>T NP_001363536.1:p.Asp778Val missense NM_001376608.1:c.2462A>T NP_001363537.1:p.Asp821Val missense NM_001376609.1:c.2462A>T NP_001363538.1:p.Asp821Val missense NM_001376610.1:c.2462A>T NP_001363539.1:p.Asp821Val missense NM_001376611.1:c.2462A>T NP_001363540.1:p.Asp821Val missense NM_001376612.1:c.2462A>T NP_001363541.1:p.Asp821Val missense NM_001376613.1:c.2462A>T NP_001363542.1:p.Asp821Val missense NM_001376614.1:c.2462A>T NP_001363543.1:p.Asp821Val missense NM_001376615.1:c.2333A>T NP_001363544.1:p.Asp778Val missense NM_001376616.1:c.2333A>T NP_001363545.1:p.Asp778Val missense NM_001376617.1:c.2333A>T NP_001363546.1:p.Asp778Val missense NM_001376618.1:c.2333A>T NP_001363547.1:p.Asp778Val missense NM_001376619.1:c.2333A>T NP_001363548.1:p.Asp778Val missense NM_001376620.1:c.2258A>T NP_001363549.1:p.Asp753Val missense NM_001376621.1:c.2333A>T NP_001363550.1:p.Asp778Val missense NM_001376622.1:c.2462A>T NP_001363551.1:p.Asp821Val missense NM_001376623.1:c.2462A>T NP_001363552.1:p.Asp821Val missense NM_001376624.1:c.2333A>T NP_001363553.1:p.Asp778Val missense NM_001376625.1:c.2333A>T NP_001363554.1:p.Asp778Val missense NM_001376626.1:c.2258A>T NP_001363555.1:p.Asp753Val missense NM_001376627.1:c.2129A>T NP_001363556.1:p.Asp710Val missense NM_001376628.1:c.2333A>T NP_001363557.1:p.Asp778Val missense NM_001376629.1:c.2333A>T NP_001363558.1:p.Asp778Val missense NM_001376630.1:c.2333A>T NP_001363559.1:p.Asp778Val missense NM_001376631.1:c.2435A>T NP_001363560.1:p.Asp812Val missense NM_001376632.1:c.2306A>T NP_001363561.1:p.Asp769Val missense NM_001376633.1:c.2462A>T NP_001363562.1:p.Asp821Val missense NM_001376634.1:c.2462A>T NP_001363563.1:p.Asp821Val missense NM_001376635.1:c.2129A>T NP_001363564.1:p.Asp710Val missense NM_001376636.1:c.2333A>T NP_001363565.1:p.Asp778Val missense NM_001376637.1:c.2333A>T NP_001363566.1:p.Asp778Val missense NM_001376638.1:c.2333A>T NP_001363567.1:p.Asp778Val missense NM_001376639.1:c.2333A>T NP_001363568.1:p.Asp778Val missense NM_001376640.1:c.2333A>T NP_001363569.1:p.Asp778Val missense NM_001376641.1:c.2333A>T NP_001363570.1:p.Asp778Val missense NM_001376642.1:c.2333A>T NP_001363571.1:p.Asp778Val missense NM_001376643.1:c.2333A>T NP_001363572.1:p.Asp778Val missense NM_001376644.1:c.2129A>T NP_001363573.1:p.Asp710Val missense NM_001376645.1:c.2333A>T NP_001363574.1:p.Asp778Val missense NM_001376646.1:c.2129A>T NP_001363575.1:p.Asp710Val missense NM_001376647.1:c.2129A>T NP_001363576.1:p.Asp710Val missense NM_001376648.1:c.2258A>T NP_001363577.1:p.Asp753Val missense NM_001376649.1:c.2306A>T NP_001363578.1:p.Asp769Val missense NM_001376650.1:c.2333A>T NP_001363579.1:p.Asp778Val missense NM_001376651.1:c.2333A>T NP_001363580.1:p.Asp778Val missense NM_001376652.1:c.2333A>T NP_001363581.1:p.Asp778Val missense NM_001376653.1:c.2333A>T NP_001363582.1:p.Asp778Val missense NM_001376654.1:c.2129A>T NP_001363583.1:p.Asp710Val missense NM_001376655.1:c.2333A>T NP_001363584.1:p.Asp778Val missense NM_001376656.1:c.2333A>T NP_001363585.1:p.Asp778Val missense NM_001376657.1:c.2258A>T NP_001363586.1:p.Asp753Val missense NM_001376658.1:c.2333A>T NP_001363587.1:p.Asp778Val missense NM_001376659.1:c.2129A>T NP_001363588.1:p.Asp710Val missense NM_001376660.1:c.2129A>T NP_001363589.1:p.Asp710Val missense NM_001376661.1:c.2333A>T NP_001363590.1:p.Asp778Val missense NM_001376662.1:c.2333A>T NP_001363591.1:p.Asp778Val missense NM_001376663.1:c.1796A>T NP_001363592.1:p.Asp599Val missense NM_003682.4:c.2462A>T NP_003673.3:p.Asp821Val missense NM_130470.3:c.2462A>T NP_569826.2:p.Asp821Val missense NM_130471.3:c.2333A>T NP_569827.2:p.Asp778Val missense NM_130472.3:c.2333A>T NP_569828.2:p.Asp778Val missense NM_130473.3:c.2462A>T NP_569829.2:p.Asp821Val missense NM_130474.3:c.2333A>T NP_569830.2:p.Asp778Val missense NM_130475.3:c.2462A>T NP_569831.1:p.Asp821Val missense NM_130476.3:c.2462A>T NP_569832.2:p.Asp821Val missense NR_164835.1:n.2664A>T non-coding transcript variant NR_164836.1:n.2535A>T non-coding transcript variant NR_164837.1:n.2664A>T non-coding transcript variant NR_164838.1:n.2385A>T non-coding transcript variant NR_164839.1:n.2535A>T non-coding transcript variant NR_164840.1:n.2664A>T non-coding transcript variant NR_164841.1:n.2664A>T non-coding transcript variant NR_164842.1:n.2640A>T non-coding transcript variant NC_000011.10:g.47285501A>T NC_000011.9:g.47307052A>T NG_029462.1:g.21126A>T NG_029462.2:g.21315A>T - Protein change
- D778V, D821V, D710V, D753V, D599V, D769V, D770V, D812V
- Other names
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- Canonical SPDI
- NC_000011.10:47285500:A: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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| MADD | - | - |
GRCh38 GRCh37 |
239 | 256 | |
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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Apr 26, 2024 | RCV004640462.1 |
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
(Apr 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV005138266.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.2462A>T (p.D821V) alteration is located in exon 14 (coding exon 13) of the MADD gene. This alteration results from a A to T substitution … (more)
The c.2462A>T (p.D821V) alteration is located in exon 14 (coding exon 13) of the MADD gene. This alteration results from a A to T substitution at nucleotide position 2462, causing the aspartic acid (D) at amino acid position 821 to be replaced by a valine (V). 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.2462A>T (p.D821V) alteration is located in exon 14 (coding exon 13) of the MADD gene. This alteration results from a A to T substitution at nucleotide position 2462, causing the aspartic acid (D) at amino acid position 821 to be replaced by a valine (V). 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 Aug 11, 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.