ClinVar Genomic variation as it relates to human health
NM_001376571.1(MADD):c.2023G>A (p.Glu675Lys)
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.2023G>A (p.Glu675Lys)
Variation ID: 2345807 Accession: VCV002345807.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47284431 (GRCh38) [ NCBI UCSC ] 11: 47305982 (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 Feb 7, 2023 Jan 26, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001135943.2:c.2023G>A NP_001129415.1:p.Glu675Lys missense NM_001135944.2:c.2023G>A NP_001129416.1:p.Glu675Lys missense NM_001376571.1:c.2023G>A NP_001363500.1:p.Glu675Lys missense NM_001376572.1:c.2023G>A NP_001363501.1:p.Glu675Lys missense NM_001376573.1:c.2023G>A NP_001363502.1:p.Glu675Lys missense NM_001376574.1:c.2023G>A NP_001363503.1:p.Glu675Lys missense NM_001376575.1:c.2023G>A NP_001363504.1:p.Glu675Lys missense NM_001376576.1:c.2023G>A NP_001363505.1:p.Glu675Lys missense NM_001376577.1:c.2023G>A NP_001363506.1:p.Glu675Lys missense NM_001376578.1:c.2023G>A NP_001363507.1:p.Glu675Lys missense NM_001376579.1:c.2023G>A NP_001363508.1:p.Glu675Lys missense NM_001376580.1:c.2023G>A NP_001363509.1:p.Glu675Lys missense NM_001376581.1:c.2023G>A NP_001363510.1:p.Glu675Lys missense NM_001376582.1:c.2023G>A NP_001363511.1:p.Glu675Lys missense NM_001376583.1:c.2023G>A NP_001363512.1:p.Glu675Lys missense NM_001376584.1:c.2023G>A NP_001363513.1:p.Glu675Lys missense NM_001376585.1:c.2023G>A NP_001363514.1:p.Glu675Lys missense NM_001376586.1:c.2023G>A NP_001363515.1:p.Glu675Lys missense NM_001376593.1:c.2023G>A NP_001363522.1:p.Glu675Lys missense NM_001376594.1:c.2023G>A NP_001363523.1:p.Glu675Lys missense NM_001376595.1:c.2023G>A NP_001363524.1:p.Glu675Lys missense NM_001376596.1:c.2023G>A NP_001363525.1:p.Glu675Lys missense NM_001376597.1:c.2023G>A NP_001363526.1:p.Glu675Lys missense NM_001376598.1:c.2023G>A NP_001363527.1:p.Glu675Lys missense NM_001376599.1:c.2023G>A NP_001363528.1:p.Glu675Lys missense NM_001376600.1:c.2023G>A NP_001363529.1:p.Glu675Lys missense NM_001376601.1:c.2023G>A NP_001363530.1:p.Glu675Lys missense NM_001376602.1:c.1999G>A NP_001363531.1:p.Glu667Lys missense NM_001376603.1:c.2023G>A NP_001363532.1:p.Glu675Lys missense NM_001376604.1:c.2023G>A NP_001363533.1:p.Glu675Lys missense NM_001376605.1:c.2023G>A NP_001363534.1:p.Glu675Lys missense NM_001376606.1:c.2023G>A NP_001363535.1:p.Glu675Lys missense NM_001376607.1:c.2023G>A NP_001363536.1:p.Glu675Lys missense NM_001376608.1:c.2023G>A NP_001363537.1:p.Glu675Lys missense NM_001376609.1:c.2023G>A NP_001363538.1:p.Glu675Lys missense NM_001376610.1:c.2023G>A NP_001363539.1:p.Glu675Lys missense NM_001376611.1:c.2023G>A NP_001363540.1:p.Glu675Lys missense NM_001376612.1:c.2023G>A NP_001363541.1:p.Glu675Lys missense NM_001376613.1:c.2023G>A NP_001363542.1:p.Glu675Lys missense NM_001376614.1:c.2023G>A NP_001363543.1:p.Glu675Lys missense NM_001376615.1:c.2023G>A NP_001363544.1:p.Glu675Lys missense NM_001376616.1:c.2023G>A NP_001363545.1:p.Glu675Lys missense NM_001376617.1:c.2023G>A NP_001363546.1:p.Glu675Lys missense NM_001376618.1:c.2023G>A NP_001363547.1:p.Glu675Lys missense NM_001376619.1:c.2023G>A NP_001363548.1:p.Glu675Lys missense NM_001376620.1:c.1819G>A NP_001363549.1:p.Glu607Lys missense NM_001376621.1:c.2023G>A NP_001363550.1:p.Glu675Lys missense NM_001376622.1:c.2023G>A NP_001363551.1:p.Glu675Lys missense NM_001376623.1:c.2023G>A NP_001363552.1:p.Glu675Lys missense NM_001376624.1:c.2023G>A NP_001363553.1:p.Glu675Lys missense NM_001376625.1:c.2023G>A NP_001363554.1:p.Glu675Lys missense NM_001376626.1:c.1819G>A NP_001363555.1:p.Glu607Lys missense NM_001376627.1:c.1819G>A NP_001363556.1:p.Glu607Lys missense NM_001376628.1:c.2023G>A NP_001363557.1:p.Glu675Lys missense NM_001376629.1:c.2023G>A NP_001363558.1:p.Glu675Lys missense NM_001376630.1:c.2023G>A NP_001363559.1:p.Glu675Lys missense NM_001376631.1:c.2023G>A NP_001363560.1:p.Glu675Lys missense NM_001376632.1:c.2023G>A NP_001363561.1:p.Glu675Lys missense NM_001376633.1:c.2023G>A NP_001363562.1:p.Glu675Lys missense NM_001376634.1:c.2023G>A NP_001363563.1:p.Glu675Lys missense NM_001376635.1:c.1819G>A NP_001363564.1:p.Glu607Lys missense NM_001376636.1:c.2023G>A NP_001363565.1:p.Glu675Lys missense NM_001376637.1:c.2023G>A NP_001363566.1:p.Glu675Lys missense NM_001376638.1:c.2023G>A NP_001363567.1:p.Glu675Lys missense NM_001376639.1:c.2023G>A NP_001363568.1:p.Glu675Lys missense NM_001376640.1:c.2023G>A NP_001363569.1:p.Glu675Lys missense NM_001376641.1:c.2023G>A NP_001363570.1:p.Glu675Lys missense NM_001376642.1:c.2023G>A NP_001363571.1:p.Glu675Lys missense NM_001376643.1:c.2023G>A NP_001363572.1:p.Glu675Lys missense NM_001376644.1:c.1819G>A NP_001363573.1:p.Glu607Lys missense NM_001376645.1:c.2023G>A NP_001363574.1:p.Glu675Lys missense NM_001376646.1:c.1819G>A NP_001363575.1:p.Glu607Lys missense NM_001376647.1:c.1819G>A NP_001363576.1:p.Glu607Lys missense NM_001376648.1:c.1819G>A NP_001363577.1:p.Glu607Lys missense NM_001376649.1:c.2023G>A NP_001363578.1:p.Glu675Lys missense NM_001376650.1:c.2023G>A NP_001363579.1:p.Glu675Lys missense NM_001376651.1:c.2023G>A NP_001363580.1:p.Glu675Lys missense NM_001376652.1:c.2023G>A NP_001363581.1:p.Glu675Lys missense NM_001376653.1:c.2023G>A NP_001363582.1:p.Glu675Lys missense NM_001376654.1:c.1819G>A NP_001363583.1:p.Glu607Lys missense NM_001376655.1:c.2023G>A NP_001363584.1:p.Glu675Lys missense NM_001376656.1:c.2023G>A NP_001363585.1:p.Glu675Lys missense NM_001376657.1:c.1819G>A NP_001363586.1:p.Glu607Lys missense NM_001376658.1:c.2023G>A NP_001363587.1:p.Glu675Lys missense NM_001376659.1:c.1819G>A NP_001363588.1:p.Glu607Lys missense NM_001376660.1:c.1819G>A NP_001363589.1:p.Glu607Lys missense NM_001376661.1:c.2023G>A NP_001363590.1:p.Glu675Lys missense NM_001376662.1:c.2023G>A NP_001363591.1:p.Glu675Lys missense NM_001376663.1:c.1357G>A NP_001363592.1:p.Glu453Lys missense NM_003682.4:c.2023G>A NP_003673.3:p.Glu675Lys missense NM_130470.3:c.2023G>A NP_569826.2:p.Glu675Lys missense NM_130471.3:c.2023G>A NP_569827.2:p.Glu675Lys missense NM_130472.3:c.2023G>A NP_569828.2:p.Glu675Lys missense NM_130473.3:c.2023G>A NP_569829.2:p.Glu675Lys missense NM_130474.3:c.2023G>A NP_569830.2:p.Glu675Lys missense NM_130475.3:c.2023G>A NP_569831.1:p.Glu675Lys missense NM_130476.3:c.2023G>A NP_569832.2:p.Glu675Lys missense NR_164835.1:n.2225G>A non-coding transcript variant NR_164836.1:n.2225G>A non-coding transcript variant NR_164837.1:n.2225G>A non-coding transcript variant NR_164838.1:n.2075G>A non-coding transcript variant NR_164839.1:n.2225G>A non-coding transcript variant NR_164840.1:n.2225G>A non-coding transcript variant NR_164841.1:n.2225G>A non-coding transcript variant NR_164842.1:n.2201G>A non-coding transcript variant NC_000011.10:g.47284431G>A NC_000011.9:g.47305982G>A NG_029462.1:g.20056G>A NG_029462.2:g.20245G>A - Protein change
- E607K, E453K, E667K, E675K
- Other names
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- Canonical SPDI
- NC_000011.10:47284430: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
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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
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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
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 |
178 | 195 |
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
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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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Jan 26, 2022 | RCV002951385.1 |
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
(Jan 26, 2022)
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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: SCV003677382.1
First in ClinVar: Feb 07, 2023 Last updated: Feb 07, 2023 |
Comment:
The c.2023G>A (p.E675K) alteration is located in exon 12 (coding exon 11) of the MADD gene. This alteration results from a G to A substitution … (more)
The c.2023G>A (p.E675K) alteration is located in exon 12 (coding exon 11) of the MADD gene. This alteration results from a G to A substitution at nucleotide position 2023, causing the glutamic acid (E) at amino acid position 675 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
Number of individuals with the variant: 1
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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 Feb 13, 2023
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.