ClinVar Genomic variation as it relates to human health
NM_001376571.1(MADD):c.640A>G (p.Ile214Val)
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.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001376571.1(MADD):c.640A>G (p.Ile214Val)
Variation ID: 2682541 Accession: VCV002682541.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47275140 (GRCh38) [ NCBI UCSC ] 11: 47296691 (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 Jan 6, 2024 Jan 6, 2024 Nov 15, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001376571.1:c.640A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Ile214Val missense NM_001135943.2:c.640A>G NP_001129415.1:p.Ile214Val missense NM_001135944.2:c.640A>G NP_001129416.1:p.Ile214Val missense NM_001376572.1:c.640A>G NP_001363501.1:p.Ile214Val missense NM_001376573.1:c.640A>G NP_001363502.1:p.Ile214Val missense NM_001376574.1:c.640A>G NP_001363503.1:p.Ile214Val missense NM_001376575.1:c.640A>G NP_001363504.1:p.Ile214Val missense NM_001376576.1:c.640A>G NP_001363505.1:p.Ile214Val missense NM_001376577.1:c.640A>G NP_001363506.1:p.Ile214Val missense NM_001376578.1:c.640A>G NP_001363507.1:p.Ile214Val missense NM_001376579.1:c.640A>G NP_001363508.1:p.Ile214Val missense NM_001376580.1:c.640A>G NP_001363509.1:p.Ile214Val missense NM_001376581.1:c.640A>G NP_001363510.1:p.Ile214Val missense NM_001376582.1:c.640A>G NP_001363511.1:p.Ile214Val missense NM_001376583.1:c.640A>G NP_001363512.1:p.Ile214Val missense NM_001376584.1:c.640A>G NP_001363513.1:p.Ile214Val missense NM_001376585.1:c.640A>G NP_001363514.1:p.Ile214Val missense NM_001376586.1:c.640A>G NP_001363515.1:p.Ile214Val missense NM_001376593.1:c.640A>G NP_001363522.1:p.Ile214Val missense NM_001376594.1:c.640A>G NP_001363523.1:p.Ile214Val missense NM_001376595.1:c.640A>G NP_001363524.1:p.Ile214Val missense NM_001376596.1:c.640A>G NP_001363525.1:p.Ile214Val missense NM_001376597.1:c.640A>G NP_001363526.1:p.Ile214Val missense NM_001376598.1:c.640A>G NP_001363527.1:p.Ile214Val missense NM_001376599.1:c.640A>G NP_001363528.1:p.Ile214Val missense NM_001376600.1:c.640A>G NP_001363529.1:p.Ile214Val missense NM_001376601.1:c.640A>G NP_001363530.1:p.Ile214Val missense NM_001376602.1:c.640A>G NP_001363531.1:p.Ile214Val missense NM_001376603.1:c.640A>G NP_001363532.1:p.Ile214Val missense NM_001376604.1:c.640A>G NP_001363533.1:p.Ile214Val missense NM_001376605.1:c.640A>G NP_001363534.1:p.Ile214Val missense NM_001376606.1:c.640A>G NP_001363535.1:p.Ile214Val missense NM_001376607.1:c.640A>G NP_001363536.1:p.Ile214Val missense NM_001376608.1:c.640A>G NP_001363537.1:p.Ile214Val missense NM_001376609.1:c.640A>G NP_001363538.1:p.Ile214Val missense NM_001376610.1:c.640A>G NP_001363539.1:p.Ile214Val missense NM_001376611.1:c.640A>G NP_001363540.1:p.Ile214Val missense NM_001376612.1:c.640A>G NP_001363541.1:p.Ile214Val missense NM_001376613.1:c.640A>G NP_001363542.1:p.Ile214Val missense NM_001376614.1:c.640A>G NP_001363543.1:p.Ile214Val missense NM_001376615.1:c.640A>G NP_001363544.1:p.Ile214Val missense NM_001376616.1:c.640A>G NP_001363545.1:p.Ile214Val missense NM_001376617.1:c.640A>G NP_001363546.1:p.Ile214Val missense NM_001376618.1:c.640A>G NP_001363547.1:p.Ile214Val missense NM_001376619.1:c.640A>G NP_001363548.1:p.Ile214Val missense NM_001376620.1:c.436A>G NP_001363549.1:p.Ile146Val missense NM_001376621.1:c.640A>G NP_001363550.1:p.Ile214Val missense NM_001376622.1:c.640A>G NP_001363551.1:p.Ile214Val missense NM_001376623.1:c.640A>G NP_001363552.1:p.Ile214Val missense NM_001376624.1:c.640A>G NP_001363553.1:p.Ile214Val missense NM_001376625.1:c.640A>G NP_001363554.1:p.Ile214Val missense NM_001376626.1:c.436A>G NP_001363555.1:p.Ile146Val missense NM_001376627.1:c.436A>G NP_001363556.1:p.Ile146Val missense NM_001376628.1:c.640A>G NP_001363557.1:p.Ile214Val missense NM_001376629.1:c.640A>G NP_001363558.1:p.Ile214Val missense NM_001376630.1:c.640A>G NP_001363559.1:p.Ile214Val missense NM_001376631.1:c.640A>G NP_001363560.1:p.Ile214Val missense NM_001376632.1:c.640A>G NP_001363561.1:p.Ile214Val missense NM_001376633.1:c.640A>G NP_001363562.1:p.Ile214Val missense NM_001376634.1:c.640A>G NP_001363563.1:p.Ile214Val missense NM_001376635.1:c.436A>G NP_001363564.1:p.Ile146Val missense NM_001376636.1:c.640A>G NP_001363565.1:p.Ile214Val missense NM_001376637.1:c.640A>G NP_001363566.1:p.Ile214Val missense NM_001376638.1:c.640A>G NP_001363567.1:p.Ile214Val missense NM_001376639.1:c.640A>G NP_001363568.1:p.Ile214Val missense NM_001376640.1:c.640A>G NP_001363569.1:p.Ile214Val missense NM_001376641.1:c.640A>G NP_001363570.1:p.Ile214Val missense NM_001376642.1:c.640A>G NP_001363571.1:p.Ile214Val missense NM_001376643.1:c.640A>G NP_001363572.1:p.Ile214Val missense NM_001376644.1:c.436A>G NP_001363573.1:p.Ile146Val missense NM_001376645.1:c.640A>G NP_001363574.1:p.Ile214Val missense NM_001376646.1:c.436A>G NP_001363575.1:p.Ile146Val missense NM_001376647.1:c.436A>G NP_001363576.1:p.Ile146Val missense NM_001376648.1:c.436A>G NP_001363577.1:p.Ile146Val missense NM_001376649.1:c.640A>G NP_001363578.1:p.Ile214Val missense NM_001376650.1:c.640A>G NP_001363579.1:p.Ile214Val missense NM_001376651.1:c.640A>G NP_001363580.1:p.Ile214Val missense NM_001376652.1:c.640A>G NP_001363581.1:p.Ile214Val missense NM_001376653.1:c.640A>G NP_001363582.1:p.Ile214Val missense NM_001376654.1:c.436A>G NP_001363583.1:p.Ile146Val missense NM_001376655.1:c.640A>G NP_001363584.1:p.Ile214Val missense NM_001376656.1:c.640A>G NP_001363585.1:p.Ile214Val missense NM_001376657.1:c.436A>G NP_001363586.1:p.Ile146Val missense NM_001376658.1:c.640A>G NP_001363587.1:p.Ile214Val missense NM_001376659.1:c.436A>G NP_001363588.1:p.Ile146Val missense NM_001376660.1:c.436A>G NP_001363589.1:p.Ile146Val missense NM_001376661.1:c.640A>G NP_001363590.1:p.Ile214Val missense NM_001376662.1:c.640A>G NP_001363591.1:p.Ile214Val missense NM_001376663.1:c.-7-759A>G intron variant NM_003682.4:c.640A>G NP_003673.3:p.Ile214Val missense NM_130470.3:c.640A>G NP_569826.2:p.Ile214Val missense NM_130471.3:c.640A>G NP_569827.2:p.Ile214Val missense NM_130472.3:c.640A>G NP_569828.2:p.Ile214Val missense NM_130473.3:c.640A>G NP_569829.2:p.Ile214Val missense NM_130474.3:c.640A>G NP_569830.2:p.Ile214Val missense NM_130475.3:c.640A>G NP_569831.1:p.Ile214Val missense NM_130476.3:c.640A>G NP_569832.2:p.Ile214Val missense NR_164835.1:n.842A>G non-coding transcript variant NR_164836.1:n.842A>G non-coding transcript variant NR_164837.1:n.842A>G non-coding transcript variant NR_164838.1:n.692A>G non-coding transcript variant NR_164839.1:n.842A>G non-coding transcript variant NR_164840.1:n.842A>G non-coding transcript variant NR_164841.1:n.842A>G non-coding transcript variant NR_164842.1:n.842A>G non-coding transcript variant NC_000011.10:g.47275140A>G NC_000011.9:g.47296691A>G NG_029462.1:g.10765A>G NG_029462.2:g.10954A>G - Protein change
- I146V, I214V
- Other names
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- Canonical SPDI
- NC_000011.10:47275139:A:G
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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 | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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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
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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 |
204 | 221 |
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
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Nov 15, 2023 | RCV003479914.1 |
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
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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 15, 2023)
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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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004222687.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
Variant summary: MADD c.640A>G (p.Ile214Val) results in a conservative amino acid change located in the cDENN domain (IPR001194) of the encoded protein sequence. Four of … (more)
Variant summary: MADD c.640A>G (p.Ile214Val) results in a conservative amino acid change located in the cDENN domain (IPR001194) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 248728 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.640A>G in individuals affected with MADD-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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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. |
Citations for germline classification of this variant
HelpThere 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 Jan 06, 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.