This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ClinVar Genomic variation as it relates to human health
NM_001376571.1(MADD):c.1257A>G (p.Pro419=)
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.
Likely benign
1
no assertion criteria provided
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.1257A>G (p.Pro419=)
Variation ID: 3034323 Accession: VCV003034323.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47279046 (GRCh38) [ NCBI UCSC ] 11: 47300597 (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 Mar 17, 2024 Oct 8, 2024 Jun 17, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001376571.1:c.1257A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Pro419= synonymous NM_001135943.2:c.1257A>G NP_001129415.1:p.Pro419= synonymous NM_001135944.2:c.1257A>G NP_001129416.1:p.Pro419= synonymous NM_001376572.1:c.1257A>G NP_001363501.1:p.Pro419= synonymous NM_001376573.1:c.1257A>G NP_001363502.1:p.Pro419= synonymous NM_001376574.1:c.1257A>G NP_001363503.1:p.Pro419= synonymous NM_001376575.1:c.1257A>G NP_001363504.1:p.Pro419= synonymous NM_001376576.1:c.1257A>G NP_001363505.1:p.Pro419= synonymous NM_001376577.1:c.1257A>G NP_001363506.1:p.Pro419= synonymous NM_001376578.1:c.1257A>G NP_001363507.1:p.Pro419= synonymous NM_001376579.1:c.1257A>G NP_001363508.1:p.Pro419= synonymous NM_001376580.1:c.1257A>G NP_001363509.1:p.Pro419= synonymous NM_001376581.1:c.1257A>G NP_001363510.1:p.Pro419= synonymous NM_001376582.1:c.1257A>G NP_001363511.1:p.Pro419= synonymous NM_001376583.1:c.1257A>G NP_001363512.1:p.Pro419= synonymous NM_001376584.1:c.1257A>G NP_001363513.1:p.Pro419= synonymous NM_001376585.1:c.1257A>G NP_001363514.1:p.Pro419= synonymous NM_001376586.1:c.1257A>G NP_001363515.1:p.Pro419= synonymous NM_001376593.1:c.1257A>G NP_001363522.1:p.Pro419= synonymous NM_001376594.1:c.1257A>G NP_001363523.1:p.Pro419= synonymous NM_001376595.1:c.1257A>G NP_001363524.1:p.Pro419= synonymous NM_001376596.1:c.1257A>G NP_001363525.1:p.Pro419= synonymous NM_001376597.1:c.1257A>G NP_001363526.1:p.Pro419= synonymous NM_001376598.1:c.1257A>G NP_001363527.1:p.Pro419= synonymous NM_001376599.1:c.1257A>G NP_001363528.1:p.Pro419= synonymous NM_001376600.1:c.1257A>G NP_001363529.1:p.Pro419= synonymous NM_001376601.1:c.1257A>G NP_001363530.1:p.Pro419= synonymous NM_001376602.1:c.1257A>G NP_001363531.1:p.Pro419= synonymous NM_001376603.1:c.1257A>G NP_001363532.1:p.Pro419= synonymous NM_001376604.1:c.1257A>G NP_001363533.1:p.Pro419= synonymous NM_001376605.1:c.1257A>G NP_001363534.1:p.Pro419= synonymous NM_001376606.1:c.1257A>G NP_001363535.1:p.Pro419= synonymous NM_001376607.1:c.1257A>G NP_001363536.1:p.Pro419= synonymous NM_001376608.1:c.1257A>G NP_001363537.1:p.Pro419= synonymous NM_001376609.1:c.1257A>G NP_001363538.1:p.Pro419= synonymous NM_001376610.1:c.1257A>G NP_001363539.1:p.Pro419= synonymous NM_001376611.1:c.1257A>G NP_001363540.1:p.Pro419= synonymous NM_001376612.1:c.1257A>G NP_001363541.1:p.Pro419= synonymous NM_001376613.1:c.1257A>G NP_001363542.1:p.Pro419= synonymous NM_001376614.1:c.1257A>G NP_001363543.1:p.Pro419= synonymous NM_001376615.1:c.1257A>G NP_001363544.1:p.Pro419= synonymous NM_001376616.1:c.1257A>G NP_001363545.1:p.Pro419= synonymous NM_001376617.1:c.1257A>G NP_001363546.1:p.Pro419= synonymous NM_001376618.1:c.1257A>G NP_001363547.1:p.Pro419= synonymous NM_001376619.1:c.1257A>G NP_001363548.1:p.Pro419= synonymous NM_001376620.1:c.1053A>G NP_001363549.1:p.Pro351= synonymous NM_001376621.1:c.1257A>G NP_001363550.1:p.Pro419= synonymous NM_001376622.1:c.1257A>G NP_001363551.1:p.Pro419= synonymous NM_001376623.1:c.1257A>G NP_001363552.1:p.Pro419= synonymous NM_001376624.1:c.1257A>G NP_001363553.1:p.Pro419= synonymous NM_001376625.1:c.1257A>G NP_001363554.1:p.Pro419= synonymous NM_001376626.1:c.1053A>G NP_001363555.1:p.Pro351= synonymous NM_001376627.1:c.1053A>G NP_001363556.1:p.Pro351= synonymous NM_001376628.1:c.1257A>G NP_001363557.1:p.Pro419= synonymous NM_001376629.1:c.1257A>G NP_001363558.1:p.Pro419= synonymous NM_001376630.1:c.1257A>G NP_001363559.1:p.Pro419= synonymous NM_001376631.1:c.1257A>G NP_001363560.1:p.Pro419= synonymous NM_001376632.1:c.1257A>G NP_001363561.1:p.Pro419= synonymous NM_001376633.1:c.1257A>G NP_001363562.1:p.Pro419= synonymous NM_001376634.1:c.1257A>G NP_001363563.1:p.Pro419= synonymous NM_001376635.1:c.1053A>G NP_001363564.1:p.Pro351= synonymous NM_001376636.1:c.1257A>G NP_001363565.1:p.Pro419= synonymous NM_001376637.1:c.1257A>G NP_001363566.1:p.Pro419= synonymous NM_001376638.1:c.1257A>G NP_001363567.1:p.Pro419= synonymous NM_001376639.1:c.1257A>G NP_001363568.1:p.Pro419= synonymous NM_001376640.1:c.1257A>G NP_001363569.1:p.Pro419= synonymous NM_001376641.1:c.1257A>G NP_001363570.1:p.Pro419= synonymous NM_001376642.1:c.1257A>G NP_001363571.1:p.Pro419= synonymous NM_001376643.1:c.1257A>G NP_001363572.1:p.Pro419= synonymous NM_001376644.1:c.1053A>G NP_001363573.1:p.Pro351= synonymous NM_001376645.1:c.1257A>G NP_001363574.1:p.Pro419= synonymous NM_001376646.1:c.1053A>G NP_001363575.1:p.Pro351= synonymous NM_001376647.1:c.1053A>G NP_001363576.1:p.Pro351= synonymous NM_001376648.1:c.1053A>G NP_001363577.1:p.Pro351= synonymous NM_001376649.1:c.1257A>G NP_001363578.1:p.Pro419= synonymous NM_001376650.1:c.1257A>G NP_001363579.1:p.Pro419= synonymous NM_001376651.1:c.1257A>G NP_001363580.1:p.Pro419= synonymous NM_001376652.1:c.1257A>G NP_001363581.1:p.Pro419= synonymous NM_001376653.1:c.1257A>G NP_001363582.1:p.Pro419= synonymous NM_001376654.1:c.1053A>G NP_001363583.1:p.Pro351= synonymous NM_001376655.1:c.1257A>G NP_001363584.1:p.Pro419= synonymous NM_001376656.1:c.1257A>G NP_001363585.1:p.Pro419= synonymous NM_001376657.1:c.1053A>G NP_001363586.1:p.Pro351= synonymous NM_001376658.1:c.1257A>G NP_001363587.1:p.Pro419= synonymous NM_001376659.1:c.1053A>G NP_001363588.1:p.Pro351= synonymous NM_001376660.1:c.1053A>G NP_001363589.1:p.Pro351= synonymous NM_001376661.1:c.1257A>G NP_001363590.1:p.Pro419= synonymous NM_001376662.1:c.1257A>G NP_001363591.1:p.Pro419= synonymous NM_001376663.1:c.591A>G NP_001363592.1:p.Pro197= synonymous NM_003682.4:c.1257A>G NP_003673.3:p.Pro419= synonymous NM_130470.3:c.1257A>G NP_569826.2:p.Pro419= synonymous NM_130471.3:c.1257A>G NP_569827.2:p.Pro419= synonymous NM_130472.3:c.1257A>G NP_569828.2:p.Pro419= synonymous NM_130473.3:c.1257A>G NP_569829.2:p.Pro419= synonymous NM_130474.3:c.1257A>G NP_569830.2:p.Pro419= synonymous NM_130475.3:c.1257A>G NP_569831.1:p.Pro419= synonymous NM_130476.3:c.1257A>G NP_569832.2:p.Pro419= synonymous NR_164835.1:n.1459A>G non-coding transcript variant NR_164836.1:n.1459A>G non-coding transcript variant NR_164837.1:n.1459A>G non-coding transcript variant NR_164838.1:n.1309A>G non-coding transcript variant NR_164839.1:n.1459A>G non-coding transcript variant NR_164840.1:n.1459A>G non-coding transcript variant NR_164841.1:n.1459A>G non-coding transcript variant NR_164842.1:n.1459A>G non-coding transcript variant NC_000011.10:g.47279046A>G NC_000011.9:g.47300597A>G NG_029462.1:g.14671A>G NG_029462.2:g.14860A>G - Protein change
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- Other names
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- Canonical SPDI
- NC_000011.10:47279045: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. |
|||
| 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. |
|---|---|---|---|---|
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MADD-related disorder
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Likely benign (1) |
no assertion criteria provided
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Jun 17, 2019 | RCV003904246.2 |
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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|---|---|---|---|---|---|
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Likely benign
(Jun 17, 2019)
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no assertion criteria provided
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: SCV004718918.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
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:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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 Oct 13, 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.