ClinVar Genomic variation as it relates to human health
NM_001376571.1(MADD):c.1967A>G (p.Asn656Ser)
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.1967A>G (p.Asn656Ser)
Variation ID: 3065471 Accession: VCV003065471.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47284375 (GRCh38) [ NCBI UCSC ] 11: 47305926 (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 Apr 6, 2024 Apr 6, 2024 Mar 26, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001376571.1:c.1967A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Asn656Ser missense NM_001135943.2:c.1967A>G NP_001129415.1:p.Asn656Ser missense NM_001135944.2:c.1967A>G NP_001129416.1:p.Asn656Ser missense NM_001376572.1:c.1967A>G NP_001363501.1:p.Asn656Ser missense NM_001376573.1:c.1967A>G NP_001363502.1:p.Asn656Ser missense NM_001376574.1:c.1967A>G NP_001363503.1:p.Asn656Ser missense NM_001376575.1:c.1967A>G NP_001363504.1:p.Asn656Ser missense NM_001376576.1:c.1967A>G NP_001363505.1:p.Asn656Ser missense NM_001376577.1:c.1967A>G NP_001363506.1:p.Asn656Ser missense NM_001376578.1:c.1967A>G NP_001363507.1:p.Asn656Ser missense NM_001376579.1:c.1967A>G NP_001363508.1:p.Asn656Ser missense NM_001376580.1:c.1967A>G NP_001363509.1:p.Asn656Ser missense NM_001376581.1:c.1967A>G NP_001363510.1:p.Asn656Ser missense NM_001376582.1:c.1967A>G NP_001363511.1:p.Asn656Ser missense NM_001376583.1:c.1967A>G NP_001363512.1:p.Asn656Ser missense NM_001376584.1:c.1967A>G NP_001363513.1:p.Asn656Ser missense NM_001376585.1:c.1967A>G NP_001363514.1:p.Asn656Ser missense NM_001376586.1:c.1967A>G NP_001363515.1:p.Asn656Ser missense NM_001376593.1:c.1967A>G NP_001363522.1:p.Asn656Ser missense NM_001376594.1:c.1967A>G NP_001363523.1:p.Asn656Ser missense NM_001376595.1:c.1967A>G NP_001363524.1:p.Asn656Ser missense NM_001376596.1:c.1967A>G NP_001363525.1:p.Asn656Ser missense NM_001376597.1:c.1967A>G NP_001363526.1:p.Asn656Ser missense NM_001376598.1:c.1967A>G NP_001363527.1:p.Asn656Ser missense NM_001376599.1:c.1967A>G NP_001363528.1:p.Asn656Ser missense NM_001376600.1:c.1967A>G NP_001363529.1:p.Asn656Ser missense NM_001376601.1:c.1967A>G NP_001363530.1:p.Asn656Ser missense NM_001376602.1:c.1967-24A>G intron variant NM_001376603.1:c.1967A>G NP_001363532.1:p.Asn656Ser missense NM_001376604.1:c.1967A>G NP_001363533.1:p.Asn656Ser missense NM_001376605.1:c.1967A>G NP_001363534.1:p.Asn656Ser missense NM_001376606.1:c.1967A>G NP_001363535.1:p.Asn656Ser missense NM_001376607.1:c.1967A>G NP_001363536.1:p.Asn656Ser missense NM_001376608.1:c.1967A>G NP_001363537.1:p.Asn656Ser missense NM_001376609.1:c.1967A>G NP_001363538.1:p.Asn656Ser missense NM_001376610.1:c.1967A>G NP_001363539.1:p.Asn656Ser missense NM_001376611.1:c.1967A>G NP_001363540.1:p.Asn656Ser missense NM_001376612.1:c.1967A>G NP_001363541.1:p.Asn656Ser missense NM_001376613.1:c.1967A>G NP_001363542.1:p.Asn656Ser missense NM_001376614.1:c.1967A>G NP_001363543.1:p.Asn656Ser missense NM_001376615.1:c.1967A>G NP_001363544.1:p.Asn656Ser missense NM_001376616.1:c.1967A>G NP_001363545.1:p.Asn656Ser missense NM_001376617.1:c.1967A>G NP_001363546.1:p.Asn656Ser missense NM_001376618.1:c.1967A>G NP_001363547.1:p.Asn656Ser missense NM_001376619.1:c.1967A>G NP_001363548.1:p.Asn656Ser missense NM_001376620.1:c.1763A>G NP_001363549.1:p.Asn588Ser missense NM_001376621.1:c.1967A>G NP_001363550.1:p.Asn656Ser missense NM_001376622.1:c.1967A>G NP_001363551.1:p.Asn656Ser missense NM_001376623.1:c.1967A>G NP_001363552.1:p.Asn656Ser missense NM_001376624.1:c.1967A>G NP_001363553.1:p.Asn656Ser missense NM_001376625.1:c.1967A>G NP_001363554.1:p.Asn656Ser missense NM_001376626.1:c.1763A>G NP_001363555.1:p.Asn588Ser missense NM_001376627.1:c.1763A>G NP_001363556.1:p.Asn588Ser missense NM_001376628.1:c.1967A>G NP_001363557.1:p.Asn656Ser missense NM_001376629.1:c.1967A>G NP_001363558.1:p.Asn656Ser missense NM_001376630.1:c.1967A>G NP_001363559.1:p.Asn656Ser missense NM_001376631.1:c.1967A>G NP_001363560.1:p.Asn656Ser missense NM_001376632.1:c.1967A>G NP_001363561.1:p.Asn656Ser missense NM_001376633.1:c.1967A>G NP_001363562.1:p.Asn656Ser missense NM_001376634.1:c.1967A>G NP_001363563.1:p.Asn656Ser missense NM_001376635.1:c.1763A>G NP_001363564.1:p.Asn588Ser missense NM_001376636.1:c.1967A>G NP_001363565.1:p.Asn656Ser missense NM_001376637.1:c.1967A>G NP_001363566.1:p.Asn656Ser missense NM_001376638.1:c.1967A>G NP_001363567.1:p.Asn656Ser missense NM_001376639.1:c.1967A>G NP_001363568.1:p.Asn656Ser missense NM_001376640.1:c.1967A>G NP_001363569.1:p.Asn656Ser missense NM_001376641.1:c.1967A>G NP_001363570.1:p.Asn656Ser missense NM_001376642.1:c.1967A>G NP_001363571.1:p.Asn656Ser missense NM_001376643.1:c.1967A>G NP_001363572.1:p.Asn656Ser missense NM_001376644.1:c.1763A>G NP_001363573.1:p.Asn588Ser missense NM_001376645.1:c.1967A>G NP_001363574.1:p.Asn656Ser missense NM_001376646.1:c.1763A>G NP_001363575.1:p.Asn588Ser missense NM_001376647.1:c.1763A>G NP_001363576.1:p.Asn588Ser missense NM_001376648.1:c.1763A>G NP_001363577.1:p.Asn588Ser missense NM_001376649.1:c.1967A>G NP_001363578.1:p.Asn656Ser missense NM_001376650.1:c.1967A>G NP_001363579.1:p.Asn656Ser missense NM_001376651.1:c.1967A>G NP_001363580.1:p.Asn656Ser missense NM_001376652.1:c.1967A>G NP_001363581.1:p.Asn656Ser missense NM_001376653.1:c.1967A>G NP_001363582.1:p.Asn656Ser missense NM_001376654.1:c.1763A>G NP_001363583.1:p.Asn588Ser missense NM_001376655.1:c.1967A>G NP_001363584.1:p.Asn656Ser missense NM_001376656.1:c.1967A>G NP_001363585.1:p.Asn656Ser missense NM_001376657.1:c.1763A>G NP_001363586.1:p.Asn588Ser missense NM_001376658.1:c.1967A>G NP_001363587.1:p.Asn656Ser missense NM_001376659.1:c.1763A>G NP_001363588.1:p.Asn588Ser missense NM_001376660.1:c.1763A>G NP_001363589.1:p.Asn588Ser missense NM_001376661.1:c.1967A>G NP_001363590.1:p.Asn656Ser missense NM_001376662.1:c.1967A>G NP_001363591.1:p.Asn656Ser missense NM_001376663.1:c.1301A>G NP_001363592.1:p.Asn434Ser missense NM_003682.4:c.1967A>G NP_003673.3:p.Asn656Ser missense NM_130470.3:c.1967A>G NP_569826.2:p.Asn656Ser missense NM_130471.3:c.1967A>G NP_569827.2:p.Asn656Ser missense NM_130472.3:c.1967A>G NP_569828.2:p.Asn656Ser missense NM_130473.3:c.1967A>G NP_569829.2:p.Asn656Ser missense NM_130474.3:c.1967A>G NP_569830.2:p.Asn656Ser missense NM_130475.3:c.1967A>G NP_569831.1:p.Asn656Ser missense NM_130476.3:c.1967A>G NP_569832.2:p.Asn656Ser missense NR_164835.1:n.2169A>G non-coding transcript variant NR_164836.1:n.2169A>G non-coding transcript variant NR_164837.1:n.2169A>G non-coding transcript variant NR_164838.1:n.2019A>G non-coding transcript variant NR_164839.1:n.2169A>G non-coding transcript variant NR_164840.1:n.2169A>G non-coding transcript variant NR_164841.1:n.2169A>G non-coding transcript variant NC_000011.10:g.47284375A>G NC_000011.9:g.47305926A>G NG_029462.1:g.20000A>G NG_029462.2:g.20189A>G - Protein change
- N434S, N588S, N656S
- Other names
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- Canonical SPDI
- NC_000011.10:47284374: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 | ||
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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 |
205 | 222 |
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
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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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Likely pathogenic (1) |
criteria provided, single submitter
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Mar 26, 2024 | RCV003990548.1 |
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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Likely pathogenic
(Mar 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Deeah syndrome
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004807291.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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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 Apr 06, 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.