ClinVar Genomic variation as it relates to human health
NM_001376571.1(MADD):c.1792A>G (p.Asn598Asp)
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.1792A>G (p.Asn598Asp)
Variation ID: 782125 Accession: VCV000782125.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47282899 (GRCh38) [ NCBI UCSC ] 11: 47304450 (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 Dec 17, 2019 Apr 15, 2024 Feb 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001376571.1:c.1792A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Asn598Asp missense NM_001135943.2:c.1792A>G NP_001129415.1:p.Asn598Asp missense NM_001135944.2:c.1792A>G NP_001129416.1:p.Asn598Asp missense NM_001376572.1:c.1792A>G NP_001363501.1:p.Asn598Asp missense NM_001376573.1:c.1792A>G NP_001363502.1:p.Asn598Asp missense NM_001376574.1:c.1792A>G NP_001363503.1:p.Asn598Asp missense NM_001376575.1:c.1792A>G NP_001363504.1:p.Asn598Asp missense NM_001376576.1:c.1792A>G NP_001363505.1:p.Asn598Asp missense NM_001376577.1:c.1792A>G NP_001363506.1:p.Asn598Asp missense NM_001376578.1:c.1792A>G NP_001363507.1:p.Asn598Asp missense NM_001376579.1:c.1792A>G NP_001363508.1:p.Asn598Asp missense NM_001376580.1:c.1792A>G NP_001363509.1:p.Asn598Asp missense NM_001376581.1:c.1792A>G NP_001363510.1:p.Asn598Asp missense NM_001376582.1:c.1792A>G NP_001363511.1:p.Asn598Asp missense NM_001376583.1:c.1792A>G NP_001363512.1:p.Asn598Asp missense NM_001376584.1:c.1792A>G NP_001363513.1:p.Asn598Asp missense NM_001376585.1:c.1792A>G NP_001363514.1:p.Asn598Asp missense NM_001376586.1:c.1792A>G NP_001363515.1:p.Asn598Asp missense NM_001376593.1:c.1792A>G NP_001363522.1:p.Asn598Asp missense NM_001376594.1:c.1792A>G NP_001363523.1:p.Asn598Asp missense NM_001376595.1:c.1792A>G NP_001363524.1:p.Asn598Asp missense NM_001376596.1:c.1792A>G NP_001363525.1:p.Asn598Asp missense NM_001376597.1:c.1792A>G NP_001363526.1:p.Asn598Asp missense NM_001376598.1:c.1792A>G NP_001363527.1:p.Asn598Asp missense NM_001376599.1:c.1792A>G NP_001363528.1:p.Asn598Asp missense NM_001376600.1:c.1792A>G NP_001363529.1:p.Asn598Asp missense NM_001376601.1:c.1792A>G NP_001363530.1:p.Asn598Asp missense NM_001376602.1:c.1792A>G NP_001363531.1:p.Asn598Asp missense NM_001376603.1:c.1792A>G NP_001363532.1:p.Asn598Asp missense NM_001376604.1:c.1792A>G NP_001363533.1:p.Asn598Asp missense NM_001376605.1:c.1792A>G NP_001363534.1:p.Asn598Asp missense NM_001376606.1:c.1792A>G NP_001363535.1:p.Asn598Asp missense NM_001376607.1:c.1792A>G NP_001363536.1:p.Asn598Asp missense NM_001376608.1:c.1792A>G NP_001363537.1:p.Asn598Asp missense NM_001376609.1:c.1792A>G NP_001363538.1:p.Asn598Asp missense NM_001376610.1:c.1792A>G NP_001363539.1:p.Asn598Asp missense NM_001376611.1:c.1792A>G NP_001363540.1:p.Asn598Asp missense NM_001376612.1:c.1792A>G NP_001363541.1:p.Asn598Asp missense NM_001376613.1:c.1792A>G NP_001363542.1:p.Asn598Asp missense NM_001376614.1:c.1792A>G NP_001363543.1:p.Asn598Asp missense NM_001376615.1:c.1792A>G NP_001363544.1:p.Asn598Asp missense NM_001376616.1:c.1792A>G NP_001363545.1:p.Asn598Asp missense NM_001376617.1:c.1792A>G NP_001363546.1:p.Asn598Asp missense NM_001376618.1:c.1792A>G NP_001363547.1:p.Asn598Asp missense NM_001376619.1:c.1792A>G NP_001363548.1:p.Asn598Asp missense NM_001376620.1:c.1588A>G NP_001363549.1:p.Asn530Asp missense NM_001376621.1:c.1792A>G NP_001363550.1:p.Asn598Asp missense NM_001376622.1:c.1792A>G NP_001363551.1:p.Asn598Asp missense NM_001376623.1:c.1792A>G NP_001363552.1:p.Asn598Asp missense NM_001376624.1:c.1792A>G NP_001363553.1:p.Asn598Asp missense NM_001376625.1:c.1792A>G NP_001363554.1:p.Asn598Asp missense NM_001376626.1:c.1588A>G NP_001363555.1:p.Asn530Asp missense NM_001376627.1:c.1588A>G NP_001363556.1:p.Asn530Asp missense NM_001376628.1:c.1792A>G NP_001363557.1:p.Asn598Asp missense NM_001376629.1:c.1792A>G NP_001363558.1:p.Asn598Asp missense NM_001376630.1:c.1792A>G NP_001363559.1:p.Asn598Asp missense NM_001376631.1:c.1792A>G NP_001363560.1:p.Asn598Asp missense NM_001376632.1:c.1792A>G NP_001363561.1:p.Asn598Asp missense NM_001376633.1:c.1792A>G NP_001363562.1:p.Asn598Asp missense NM_001376634.1:c.1792A>G NP_001363563.1:p.Asn598Asp missense NM_001376635.1:c.1588A>G NP_001363564.1:p.Asn530Asp missense NM_001376636.1:c.1792A>G NP_001363565.1:p.Asn598Asp missense NM_001376637.1:c.1792A>G NP_001363566.1:p.Asn598Asp missense NM_001376638.1:c.1792A>G NP_001363567.1:p.Asn598Asp missense NM_001376639.1:c.1792A>G NP_001363568.1:p.Asn598Asp missense NM_001376640.1:c.1792A>G NP_001363569.1:p.Asn598Asp missense NM_001376641.1:c.1792A>G NP_001363570.1:p.Asn598Asp missense NM_001376642.1:c.1792A>G NP_001363571.1:p.Asn598Asp missense NM_001376643.1:c.1792A>G NP_001363572.1:p.Asn598Asp missense NM_001376644.1:c.1588A>G NP_001363573.1:p.Asn530Asp missense NM_001376645.1:c.1792A>G NP_001363574.1:p.Asn598Asp missense NM_001376646.1:c.1588A>G NP_001363575.1:p.Asn530Asp missense NM_001376647.1:c.1588A>G NP_001363576.1:p.Asn530Asp missense NM_001376648.1:c.1588A>G NP_001363577.1:p.Asn530Asp missense NM_001376649.1:c.1792A>G NP_001363578.1:p.Asn598Asp missense NM_001376650.1:c.1792A>G NP_001363579.1:p.Asn598Asp missense NM_001376651.1:c.1792A>G NP_001363580.1:p.Asn598Asp missense NM_001376652.1:c.1792A>G NP_001363581.1:p.Asn598Asp missense NM_001376653.1:c.1792A>G NP_001363582.1:p.Asn598Asp missense NM_001376654.1:c.1588A>G NP_001363583.1:p.Asn530Asp missense NM_001376655.1:c.1792A>G NP_001363584.1:p.Asn598Asp missense NM_001376656.1:c.1792A>G NP_001363585.1:p.Asn598Asp missense NM_001376657.1:c.1588A>G NP_001363586.1:p.Asn530Asp missense NM_001376658.1:c.1792A>G NP_001363587.1:p.Asn598Asp missense NM_001376659.1:c.1588A>G NP_001363588.1:p.Asn530Asp missense NM_001376660.1:c.1588A>G NP_001363589.1:p.Asn530Asp missense NM_001376661.1:c.1792A>G NP_001363590.1:p.Asn598Asp missense NM_001376662.1:c.1792A>G NP_001363591.1:p.Asn598Asp missense NM_001376663.1:c.1126A>G NP_001363592.1:p.Asn376Asp missense NM_003682.4:c.1792A>G NP_003673.3:p.Asn598Asp missense NM_130470.3:c.1792A>G NP_569826.2:p.Asn598Asp missense NM_130471.3:c.1792A>G NP_569827.2:p.Asn598Asp missense NM_130472.3:c.1792A>G NP_569828.2:p.Asn598Asp missense NM_130473.3:c.1792A>G NP_569829.2:p.Asn598Asp missense NM_130474.3:c.1792A>G NP_569830.2:p.Asn598Asp missense NM_130475.3:c.1792A>G NP_569831.1:p.Asn598Asp missense NM_130476.3:c.1792A>G NP_569832.2:p.Asn598Asp missense NR_164835.1:n.1994A>G non-coding transcript variant NR_164836.1:n.1994A>G non-coding transcript variant NR_164837.1:n.1994A>G non-coding transcript variant NR_164838.1:n.1844A>G non-coding transcript variant NR_164839.1:n.1994A>G non-coding transcript variant NR_164840.1:n.1994A>G non-coding transcript variant NR_164841.1:n.1994A>G non-coding transcript variant NR_164842.1:n.1994A>G non-coding transcript variant NC_000011.10:g.47282899A>G NC_000011.9:g.47304450A>G NG_029462.1:g.18524A>G - Protein change
- N598D, N376D, N530D
- Other names
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- Canonical SPDI
- NC_000011.10:47282898: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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0.00080 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00062
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD), exomes 0.00179
Exome Aggregation Consortium (ExAC) 0.00188
The Genome Aggregation Database (gnomAD) 0.00195
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Trans-Omics for Precision Medicine (TOPMed) 0.00210
- 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
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 |
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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Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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Feb 1, 2024 | RCV000963472.7 |
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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Likely benign
(Aug 08, 2018)
|
criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001110630.2
First in ClinVar: Dec 17, 2019 Last updated: Oct 07, 2023 |
|
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Likely benign
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004130089.4
First in ClinVar: Nov 20, 2023 Last updated: Apr 15, 2024 |
Comment:
MADD: BP4, BS2
Number of individuals with the variant: 5
|
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 rs138087178 ...
HelpRecord last updated Apr 15, 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.