ClinVar Genomic variation as it relates to human health
NM_001376571.1(MADD):c.2294G>A (p.Arg765Gln)
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.2294G>A (p.Arg765Gln)
Variation ID: 1321157 Accession: VCV001321157.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47285077 (GRCh38) [ NCBI UCSC ] 11: 47306628 (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 Nov 12, 2021 Mar 16, 2024 Sep 5, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001376571.1:c.2294G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Arg765Gln missense NM_001135943.2:c.2282+12G>A intron variant NM_001135944.2:c.2282+12G>A intron variant NM_001376572.1:c.2294G>A NP_001363501.1:p.Arg765Gln missense NM_001376573.1:c.2294G>A NP_001363502.1:p.Arg765Gln missense NM_001376574.1:c.2294G>A NP_001363503.1:p.Arg765Gln missense NM_001376575.1:c.2294G>A NP_001363504.1:p.Arg765Gln missense NM_001376576.1:c.2294G>A NP_001363505.1:p.Arg765Gln missense NM_001376577.1:c.2294G>A NP_001363506.1:p.Arg765Gln missense NM_001376578.1:c.2294G>A NP_001363507.1:p.Arg765Gln missense NM_001376579.1:c.2294G>A NP_001363508.1:p.Arg765Gln missense NM_001376580.1:c.2294G>A NP_001363509.1:p.Arg765Gln missense NM_001376581.1:c.2282+12G>A intron variant NM_001376582.1:c.2282+12G>A intron variant NM_001376583.1:c.2294G>A NP_001363512.1:p.Arg765Gln missense NM_001376584.1:c.2294G>A NP_001363513.1:p.Arg765Gln missense NM_001376585.1:c.2282+12G>A intron variant NM_001376586.1:c.2282+12G>A intron variant NM_001376593.1:c.2294G>A NP_001363522.1:p.Arg765Gln missense NM_001376594.1:c.2294G>A NP_001363523.1:p.Arg765Gln missense NM_001376595.1:c.2282+12G>A intron variant NM_001376596.1:c.2294G>A NP_001363525.1:p.Arg765Gln missense NM_001376597.1:c.2282+12G>A intron variant NM_001376598.1:c.2282+12G>A intron variant NM_001376599.1:c.2294G>A NP_001363528.1:p.Arg765Gln missense NM_001376600.1:c.2294G>A NP_001363529.1:p.Arg765Gln missense NM_001376601.1:c.2294G>A NP_001363530.1:p.Arg765Gln missense NM_001376602.1:c.2258+12G>A intron variant NM_001376603.1:c.2282+12G>A intron variant NM_001376604.1:c.2282+12G>A intron variant NM_001376605.1:c.2294G>A NP_001363534.1:p.Arg765Gln missense NM_001376606.1:c.2294G>A NP_001363535.1:p.Arg765Gln missense NM_001376607.1:c.2282+12G>A intron variant NM_001376608.1:c.2294G>A NP_001363537.1:p.Arg765Gln missense NM_001376609.1:c.2294G>A NP_001363538.1:p.Arg765Gln missense NM_001376610.1:c.2294G>A NP_001363539.1:p.Arg765Gln missense NM_001376611.1:c.2294G>A NP_001363540.1:p.Arg765Gln missense NM_001376612.1:c.2294G>A NP_001363541.1:p.Arg765Gln missense NM_001376613.1:c.2294G>A NP_001363542.1:p.Arg765Gln missense NM_001376614.1:c.2294G>A NP_001363543.1:p.Arg765Gln missense NM_001376615.1:c.2282+12G>A intron variant NM_001376616.1:c.2282+12G>A intron variant NM_001376617.1:c.2282+12G>A intron variant NM_001376618.1:c.2282+12G>A intron variant NM_001376619.1:c.2282+12G>A intron variant NM_001376620.1:c.2090G>A NP_001363549.1:p.Arg697Gln missense NM_001376621.1:c.2282+12G>A intron variant NM_001376622.1:c.2294G>A NP_001363551.1:p.Arg765Gln missense NM_001376623.1:c.2294G>A NP_001363552.1:p.Arg765Gln missense NM_001376624.1:c.2282+12G>A intron variant NM_001376625.1:c.2282+12G>A intron variant NM_001376626.1:c.2090G>A NP_001363555.1:p.Arg697Gln missense NM_001376627.1:c.2078+12G>A intron variant NM_001376628.1:c.2282+12G>A intron variant NM_001376629.1:c.2282+12G>A intron variant NM_001376630.1:c.2282+12G>A intron variant NM_001376631.1:c.2294G>A NP_001363560.1:p.Arg765Gln missense NM_001376632.1:c.2282+12G>A intron variant NM_001376633.1:c.2294G>A NP_001363562.1:p.Arg765Gln missense NM_001376634.1:c.2294G>A NP_001363563.1:p.Arg765Gln missense NM_001376635.1:c.2078+12G>A intron variant NM_001376636.1:c.2282+12G>A intron variant NM_001376637.1:c.2282+12G>A intron variant NM_001376638.1:c.2282+12G>A intron variant NM_001376639.1:c.2282+12G>A intron variant NM_001376640.1:c.2282+12G>A intron variant NM_001376641.1:c.2282+12G>A intron variant NM_001376642.1:c.2282+12G>A intron variant NM_001376643.1:c.2282+12G>A intron variant NM_001376644.1:c.2078+12G>A intron variant NM_001376645.1:c.2282+12G>A intron variant NM_001376646.1:c.2078+12G>A intron variant NM_001376647.1:c.2078+12G>A intron variant NM_001376648.1:c.2090G>A NP_001363577.1:p.Arg697Gln missense NM_001376649.1:c.2282+12G>A intron variant NM_001376650.1:c.2282+12G>A intron variant NM_001376651.1:c.2282+12G>A intron variant NM_001376652.1:c.2282+12G>A intron variant NM_001376653.1:c.2282+12G>A intron variant NM_001376654.1:c.2078+12G>A intron variant NM_001376655.1:c.2282+12G>A intron variant NM_001376656.1:c.2282+12G>A intron variant NM_001376657.1:c.2090G>A NP_001363586.1:p.Arg697Gln missense NM_001376658.1:c.2282+12G>A intron variant NM_001376659.1:c.2078+12G>A intron variant NM_001376660.1:c.2078+12G>A intron variant NM_001376661.1:c.2282+12G>A intron variant NM_001376662.1:c.2282+12G>A intron variant NM_001376663.1:c.1628G>A NP_001363592.1:p.Arg543Gln missense NM_003682.4:c.2294G>A NP_003673.3:p.Arg765Gln missense NM_130470.3:c.2294G>A NP_569826.2:p.Arg765Gln missense NM_130471.3:c.2282+12G>A intron variant NM_130472.3:c.2282+12G>A intron variant NM_130473.3:c.2294G>A NP_569829.2:p.Arg765Gln missense NM_130474.3:c.2282+12G>A intron variant NM_130475.3:c.2294G>A NP_569831.1:p.Arg765Gln missense NM_130476.3:c.2294G>A NP_569832.2:p.Arg765Gln missense NR_164835.1:n.2496G>A non-coding transcript variant NR_164837.1:n.2496G>A non-coding transcript variant NR_164840.1:n.2496G>A non-coding transcript variant NR_164841.1:n.2496G>A non-coding transcript variant NR_164842.1:n.2472G>A non-coding transcript variant NC_000011.10:g.47285077G>A NC_000011.9:g.47306628G>A NG_029462.1:g.20702G>A - Protein change
- R543Q, R697Q, R765Q
- Other names
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- Canonical SPDI
- NC_000011.10:47285076: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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0.07388 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.07135
1000 Genomes Project 30x 0.07308
1000 Genomes Project 0.07388
The Genome Aggregation Database (gnomAD) 0.07565
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.08278
The Genome Aggregation Database (gnomAD), exomes 0.08628
Exome Aggregation Consortium (ExAC) 0.09037
- 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
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 |
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
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. |
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Benign (1) |
criteria provided, single submitter
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Sep 5, 2021 | RCV001775508.2 | |
Benign (1) |
criteria provided, single submitter
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Sep 5, 2021 | RCV001775509.2 | |
Benign (1) |
criteria provided, single submitter
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Oct 30, 2019 | RCV003976169.1 |
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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Benign
(Sep 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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Deeah syndrome
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002014078.2
First in ClinVar: Nov 12, 2021 Last updated: Oct 07, 2023 |
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Benign
(Sep 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002014079.2
First in ClinVar: Nov 12, 2021 Last updated: Oct 07, 2023 |
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Benign
(Oct 30, 2019)
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criteria provided, single submitter
Method: clinical testing
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MADD-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004793392.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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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 rs3736101 ...
HelpRecord last updated Mar 17, 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.