The c.2371A>G (p.S791G) alteration is located in exon 13 (coding exon 12) of the MADD gene. This alteration results from a A to G substitution at nucleotide position 2371, causing the serine (S) at amino acid position 791 to be replaced by a glycine (G). 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.2371A>G (p.Ser791Gly)
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.2371A>G (p.Ser791Gly)
Variation ID: 3292539 Accession: VCV003292539.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47285154 (GRCh38) [ NCBI UCSC ] 11: 47306705 (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 Jun 10, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001376571.1:c.2371A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Ser791Gly missense NM_001135943.2:c.2282+89A>G intron variant NM_001135944.2:c.2282+89A>G intron variant NM_001376572.1:c.2371A>G NP_001363501.1:p.Ser791Gly missense NM_001376573.1:c.2371A>G NP_001363502.1:p.Ser791Gly missense NM_001376574.1:c.2371A>G NP_001363503.1:p.Ser791Gly missense NM_001376575.1:c.2371A>G NP_001363504.1:p.Ser791Gly missense NM_001376576.1:c.2371A>G NP_001363505.1:p.Ser791Gly missense NM_001376577.1:c.2371A>G NP_001363506.1:p.Ser791Gly missense NM_001376578.1:c.2371A>G NP_001363507.1:p.Ser791Gly missense NM_001376579.1:c.2371A>G NP_001363508.1:p.Ser791Gly missense NM_001376580.1:c.2371A>G NP_001363509.1:p.Ser791Gly missense NM_001376581.1:c.2282+89A>G intron variant NM_001376582.1:c.2282+89A>G intron variant NM_001376583.1:c.2371A>G NP_001363512.1:p.Ser791Gly missense NM_001376584.1:c.2371A>G NP_001363513.1:p.Ser791Gly missense NM_001376585.1:c.2282+89A>G intron variant NM_001376586.1:c.2282+89A>G intron variant NM_001376593.1:c.2371A>G NP_001363522.1:p.Ser791Gly missense NM_001376594.1:c.2371A>G NP_001363523.1:p.Ser791Gly missense NM_001376595.1:c.2282+89A>G intron variant NM_001376596.1:c.2371A>G NP_001363525.1:p.Ser791Gly missense NM_001376597.1:c.2282+89A>G intron variant NM_001376598.1:c.2282+89A>G intron variant NM_001376599.1:c.2371A>G NP_001363528.1:p.Ser791Gly missense NM_001376600.1:c.2371A>G NP_001363529.1:p.Ser791Gly missense NM_001376601.1:c.2371A>G NP_001363530.1:p.Ser791Gly missense NM_001376602.1:c.2258+89A>G intron variant NM_001376603.1:c.2282+89A>G intron variant NM_001376604.1:c.2282+89A>G intron variant NM_001376605.1:c.2371A>G NP_001363534.1:p.Ser791Gly missense NM_001376606.1:c.2371A>G NP_001363535.1:p.Ser791Gly missense NM_001376607.1:c.2282+89A>G intron variant NM_001376608.1:c.2371A>G NP_001363537.1:p.Ser791Gly missense NM_001376609.1:c.2371A>G NP_001363538.1:p.Ser791Gly missense NM_001376610.1:c.2371A>G NP_001363539.1:p.Ser791Gly missense NM_001376611.1:c.2371A>G NP_001363540.1:p.Ser791Gly missense NM_001376612.1:c.2371A>G NP_001363541.1:p.Ser791Gly missense NM_001376613.1:c.2371A>G NP_001363542.1:p.Ser791Gly missense NM_001376614.1:c.2371A>G NP_001363543.1:p.Ser791Gly missense NM_001376615.1:c.2282+89A>G intron variant NM_001376616.1:c.2282+89A>G intron variant NM_001376617.1:c.2282+89A>G intron variant NM_001376618.1:c.2282+89A>G intron variant NM_001376619.1:c.2282+89A>G intron variant NM_001376620.1:c.2167A>G NP_001363549.1:p.Ser723Gly missense NM_001376621.1:c.2282+89A>G intron variant NM_001376622.1:c.2371A>G NP_001363551.1:p.Ser791Gly missense NM_001376623.1:c.2371A>G NP_001363552.1:p.Ser791Gly missense NM_001376624.1:c.2282+89A>G intron variant NM_001376625.1:c.2282+89A>G intron variant NM_001376626.1:c.2167A>G NP_001363555.1:p.Ser723Gly missense NM_001376627.1:c.2078+89A>G intron variant NM_001376628.1:c.2282+89A>G intron variant NM_001376629.1:c.2282+89A>G intron variant NM_001376630.1:c.2282+89A>G intron variant NM_001376631.1:c.2371A>G NP_001363560.1:p.Ser791Gly missense NM_001376632.1:c.2282+89A>G intron variant NM_001376633.1:c.2371A>G NP_001363562.1:p.Ser791Gly missense NM_001376634.1:c.2371A>G NP_001363563.1:p.Ser791Gly missense NM_001376635.1:c.2078+89A>G intron variant NM_001376636.1:c.2282+89A>G intron variant NM_001376637.1:c.2282+89A>G intron variant NM_001376638.1:c.2282+89A>G intron variant NM_001376639.1:c.2282+89A>G intron variant NM_001376640.1:c.2282+89A>G intron variant NM_001376641.1:c.2282+89A>G intron variant NM_001376642.1:c.2282+89A>G intron variant NM_001376643.1:c.2282+89A>G intron variant NM_001376644.1:c.2078+89A>G intron variant NM_001376645.1:c.2282+89A>G intron variant NM_001376646.1:c.2078+89A>G intron variant NM_001376647.1:c.2078+89A>G intron variant NM_001376648.1:c.2167A>G NP_001363577.1:p.Ser723Gly missense NM_001376649.1:c.2282+89A>G intron variant NM_001376650.1:c.2282+89A>G intron variant NM_001376651.1:c.2282+89A>G intron variant NM_001376652.1:c.2282+89A>G intron variant NM_001376653.1:c.2282+89A>G intron variant NM_001376654.1:c.2078+89A>G intron variant NM_001376655.1:c.2282+89A>G intron variant NM_001376656.1:c.2282+89A>G intron variant NM_001376657.1:c.2167A>G NP_001363586.1:p.Ser723Gly missense NM_001376658.1:c.2282+89A>G intron variant NM_001376659.1:c.2078+89A>G intron variant NM_001376660.1:c.2078+89A>G intron variant NM_001376661.1:c.2282+89A>G intron variant NM_001376662.1:c.2282+89A>G intron variant NM_001376663.1:c.1705A>G NP_001363592.1:p.Ser569Gly missense NM_003682.4:c.2371A>G NP_003673.3:p.Ser791Gly missense NM_130470.3:c.2371A>G NP_569826.2:p.Ser791Gly missense NM_130471.3:c.2282+89A>G intron variant NM_130472.3:c.2282+89A>G intron variant NM_130473.3:c.2371A>G NP_569829.2:p.Ser791Gly missense NM_130474.3:c.2282+89A>G intron variant NM_130475.3:c.2371A>G NP_569831.1:p.Ser791Gly missense NM_130476.3:c.2371A>G NP_569832.2:p.Ser791Gly missense NR_164835.1:n.2573A>G non-coding transcript variant NR_164837.1:n.2573A>G non-coding transcript variant NR_164840.1:n.2573A>G non-coding transcript variant NR_164841.1:n.2573A>G non-coding transcript variant NR_164842.1:n.2549A>G non-coding transcript variant NC_000011.10:g.47285154A>G NC_000011.9:g.47306705A>G NG_029462.1:g.20779A>G NG_029462.2:g.20968A>G - Protein change
- S791G, S569G, S723G
- Other names
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- Canonical SPDI
- NC_000011.10:47285153: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 | ||
|---|---|---|---|---|---|---|
| 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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Jun 10, 2024 | RCV004640450.1 |
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
(Jun 10, 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: SCV005138252.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.2371A>G (p.S791G) alteration is located in exon 13 (coding exon 12) of the MADD gene. This alteration results from a A to G substitution … (more)
The c.2371A>G (p.S791G) alteration is located in exon 13 (coding exon 12) of the MADD gene. This alteration results from a A to G substitution at nucleotide position 2371, causing the serine (S) at amino acid position 791 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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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.2371A>G (p.S791G) alteration is located in exon 13 (coding exon 12) of the MADD gene. This alteration results from a A to G substitution at nucleotide position 2371, causing the serine (S) at amino acid position 791 to be replaced by a glycine (G). 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.