The c.2491C>G (p.P831A) alteration is located in exon 14 (coding exon 13) of the MADD gene. This alteration results from a C to G substitution at nucleotide position 2491, causing the proline (P) at amino acid position 831 to be replaced by an alanine (A). 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.2491C>G (p.Pro831Ala)
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.2491C>G (p.Pro831Ala)
Variation ID: 2373327 Accession: VCV002373327.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47285530 (GRCh38) [ NCBI UCSC ] 11: 47307081 (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 Dec 28, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001376571.1:c.2491C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Pro831Ala missense NM_001135943.2:c.2362C>G NP_001129415.1:p.Pro788Ala missense NM_001135944.2:c.2362C>G NP_001129416.1:p.Pro788Ala missense NM_001376572.1:c.2491C>G NP_001363501.1:p.Pro831Ala missense NM_001376573.1:c.2491C>G NP_001363502.1:p.Pro831Ala missense NM_001376574.1:c.2491C>G NP_001363503.1:p.Pro831Ala missense NM_001376575.1:c.2491C>G NP_001363504.1:p.Pro831Ala missense NM_001376576.1:c.2491C>G NP_001363505.1:p.Pro831Ala missense NM_001376577.1:c.2491C>G NP_001363506.1:p.Pro831Ala missense NM_001376578.1:c.2464C>G NP_001363507.1:p.Pro822Ala missense NM_001376579.1:c.2491C>G NP_001363508.1:p.Pro831Ala missense NM_001376580.1:c.2491C>G NP_001363509.1:p.Pro831Ala missense NM_001376581.1:c.2362C>G NP_001363510.1:p.Pro788Ala missense NM_001376582.1:c.2362C>G NP_001363511.1:p.Pro788Ala missense NM_001376583.1:c.2491C>G NP_001363512.1:p.Pro831Ala missense NM_001376584.1:c.2491C>G NP_001363513.1:p.Pro831Ala missense NM_001376585.1:c.2362C>G NP_001363514.1:p.Pro788Ala missense NM_001376586.1:c.2362C>G NP_001363515.1:p.Pro788Ala missense NM_001376593.1:c.2491C>G NP_001363522.1:p.Pro831Ala missense NM_001376594.1:c.2491C>G NP_001363523.1:p.Pro831Ala missense NM_001376595.1:c.2362C>G NP_001363524.1:p.Pro788Ala missense NM_001376596.1:c.2491C>G NP_001363525.1:p.Pro831Ala missense NM_001376597.1:c.2362C>G NP_001363526.1:p.Pro788Ala missense NM_001376598.1:c.2362C>G NP_001363527.1:p.Pro788Ala missense NM_001376599.1:c.2491C>G NP_001363528.1:p.Pro831Ala missense NM_001376600.1:c.2491C>G NP_001363529.1:p.Pro831Ala missense NM_001376601.1:c.2491C>G NP_001363530.1:p.Pro831Ala missense NM_001376602.1:c.2338C>G NP_001363531.1:p.Pro780Ala missense NM_001376603.1:c.2362C>G NP_001363532.1:p.Pro788Ala missense NM_001376604.1:c.2362C>G NP_001363533.1:p.Pro788Ala missense NM_001376605.1:c.2491C>G NP_001363534.1:p.Pro831Ala missense NM_001376606.1:c.2491C>G NP_001363535.1:p.Pro831Ala missense NM_001376607.1:c.2362C>G NP_001363536.1:p.Pro788Ala missense NM_001376608.1:c.2491C>G NP_001363537.1:p.Pro831Ala missense NM_001376609.1:c.2491C>G NP_001363538.1:p.Pro831Ala missense NM_001376610.1:c.2491C>G NP_001363539.1:p.Pro831Ala missense NM_001376611.1:c.2491C>G NP_001363540.1:p.Pro831Ala missense NM_001376612.1:c.2491C>G NP_001363541.1:p.Pro831Ala missense NM_001376613.1:c.2491C>G NP_001363542.1:p.Pro831Ala missense NM_001376614.1:c.2491C>G NP_001363543.1:p.Pro831Ala missense NM_001376615.1:c.2362C>G NP_001363544.1:p.Pro788Ala missense NM_001376616.1:c.2362C>G NP_001363545.1:p.Pro788Ala missense NM_001376617.1:c.2362C>G NP_001363546.1:p.Pro788Ala missense NM_001376618.1:c.2362C>G NP_001363547.1:p.Pro788Ala missense NM_001376619.1:c.2362C>G NP_001363548.1:p.Pro788Ala missense NM_001376620.1:c.2287C>G NP_001363549.1:p.Pro763Ala missense NM_001376621.1:c.2362C>G NP_001363550.1:p.Pro788Ala missense NM_001376622.1:c.2491C>G NP_001363551.1:p.Pro831Ala missense NM_001376623.1:c.2491C>G NP_001363552.1:p.Pro831Ala missense NM_001376624.1:c.2362C>G NP_001363553.1:p.Pro788Ala missense NM_001376625.1:c.2362C>G NP_001363554.1:p.Pro788Ala missense NM_001376626.1:c.2287C>G NP_001363555.1:p.Pro763Ala missense NM_001376627.1:c.2158C>G NP_001363556.1:p.Pro720Ala missense NM_001376628.1:c.2362C>G NP_001363557.1:p.Pro788Ala missense NM_001376629.1:c.2362C>G NP_001363558.1:p.Pro788Ala missense NM_001376630.1:c.2362C>G NP_001363559.1:p.Pro788Ala missense NM_001376631.1:c.2464C>G NP_001363560.1:p.Pro822Ala missense NM_001376632.1:c.2335C>G NP_001363561.1:p.Pro779Ala missense NM_001376633.1:c.2491C>G NP_001363562.1:p.Pro831Ala missense NM_001376634.1:c.2491C>G NP_001363563.1:p.Pro831Ala missense NM_001376635.1:c.2158C>G NP_001363564.1:p.Pro720Ala missense NM_001376636.1:c.2362C>G NP_001363565.1:p.Pro788Ala missense NM_001376637.1:c.2362C>G NP_001363566.1:p.Pro788Ala missense NM_001376638.1:c.2362C>G NP_001363567.1:p.Pro788Ala missense NM_001376639.1:c.2362C>G NP_001363568.1:p.Pro788Ala missense NM_001376640.1:c.2362C>G NP_001363569.1:p.Pro788Ala missense NM_001376641.1:c.2362C>G NP_001363570.1:p.Pro788Ala missense NM_001376642.1:c.2362C>G NP_001363571.1:p.Pro788Ala missense NM_001376643.1:c.2362C>G NP_001363572.1:p.Pro788Ala missense NM_001376644.1:c.2158C>G NP_001363573.1:p.Pro720Ala missense NM_001376645.1:c.2362C>G NP_001363574.1:p.Pro788Ala missense NM_001376646.1:c.2158C>G NP_001363575.1:p.Pro720Ala missense NM_001376647.1:c.2158C>G NP_001363576.1:p.Pro720Ala missense NM_001376648.1:c.2287C>G NP_001363577.1:p.Pro763Ala missense NM_001376649.1:c.2335C>G NP_001363578.1:p.Pro779Ala missense NM_001376650.1:c.2362C>G NP_001363579.1:p.Pro788Ala missense NM_001376651.1:c.2362C>G NP_001363580.1:p.Pro788Ala missense NM_001376652.1:c.2362C>G NP_001363581.1:p.Pro788Ala missense NM_001376653.1:c.2362C>G NP_001363582.1:p.Pro788Ala missense NM_001376654.1:c.2158C>G NP_001363583.1:p.Pro720Ala missense NM_001376655.1:c.2362C>G NP_001363584.1:p.Pro788Ala missense NM_001376656.1:c.2362C>G NP_001363585.1:p.Pro788Ala missense NM_001376657.1:c.2287C>G NP_001363586.1:p.Pro763Ala missense NM_001376658.1:c.2362C>G NP_001363587.1:p.Pro788Ala missense NM_001376659.1:c.2158C>G NP_001363588.1:p.Pro720Ala missense NM_001376660.1:c.2158C>G NP_001363589.1:p.Pro720Ala missense NM_001376661.1:c.2362C>G NP_001363590.1:p.Pro788Ala missense NM_001376662.1:c.2362C>G NP_001363591.1:p.Pro788Ala missense NM_001376663.1:c.1825C>G NP_001363592.1:p.Pro609Ala missense NM_003682.4:c.2491C>G NP_003673.3:p.Pro831Ala missense NM_130470.3:c.2491C>G NP_569826.2:p.Pro831Ala missense NM_130471.3:c.2362C>G NP_569827.2:p.Pro788Ala missense NM_130472.3:c.2362C>G NP_569828.2:p.Pro788Ala missense NM_130473.3:c.2491C>G NP_569829.2:p.Pro831Ala missense NM_130474.3:c.2362C>G NP_569830.2:p.Pro788Ala missense NM_130475.3:c.2491C>G NP_569831.1:p.Pro831Ala missense NM_130476.3:c.2491C>G NP_569832.2:p.Pro831Ala missense NR_164835.1:n.2693C>G non-coding transcript variant NR_164836.1:n.2564C>G non-coding transcript variant NR_164837.1:n.2693C>G non-coding transcript variant NR_164838.1:n.2414C>G non-coding transcript variant NR_164839.1:n.2564C>G non-coding transcript variant NR_164840.1:n.2693C>G non-coding transcript variant NR_164841.1:n.2693C>G non-coding transcript variant NR_164842.1:n.2669C>G non-coding transcript variant NC_000011.10:g.47285530C>G NC_000011.9:g.47307081C>G NG_029462.1:g.21155C>G NG_029462.2:g.21344C>G - Protein change
- P609A, P822A, P763A, P780A, P720A, P779A, P788A, P831A
- Other names
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- Canonical SPDI
- NC_000011.10:47285529:C: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 | ||
|---|---|---|---|---|---|---|
| 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 |
243 | 260 | |
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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Dec 28, 2022 | RCV003004699.2 |
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
(Dec 28, 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: SCV003712006.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.2491C>G (p.P831A) alteration is located in exon 14 (coding exon 13) of the MADD gene. This alteration results from a C to G substitution … (more)
The c.2491C>G (p.P831A) alteration is located in exon 14 (coding exon 13) of the MADD gene. This alteration results from a C to G substitution at nucleotide position 2491, causing the proline (P) at amino acid position 831 to be replaced by an alanine (A). 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.2491C>G (p.P831A) alteration is located in exon 14 (coding exon 13) of the MADD gene. This alteration results from a C to G substitution at nucleotide position 2491, causing the proline (P) at amino acid position 831 to be replaced by an alanine (A). 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 May 01, 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.