ClinVar Genomic variation as it relates to human health
NM_001376571.1(MADD):c.994C>T (p.Leu332Phe)
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.994C>T (p.Leu332Phe)
Variation ID: 806671 Accession: VCV000806671.23
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47276762 (GRCh38) [ NCBI UCSC ] 11: 47298313 (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 Feb 3, 2020 May 12, 2024 Oct 1, 2018 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001376571.1:c.994C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363500.1:p.Leu332Phe missense NM_001135943.2:c.994C>T NP_001129415.1:p.Leu332Phe missense NM_001135944.2:c.994C>T NP_001129416.1:p.Leu332Phe missense NM_001376572.1:c.994C>T NP_001363501.1:p.Leu332Phe missense NM_001376573.1:c.994C>T NP_001363502.1:p.Leu332Phe missense NM_001376574.1:c.994C>T NP_001363503.1:p.Leu332Phe missense NM_001376575.1:c.994C>T NP_001363504.1:p.Leu332Phe missense NM_001376576.1:c.994C>T NP_001363505.1:p.Leu332Phe missense NM_001376577.1:c.994C>T NP_001363506.1:p.Leu332Phe missense NM_001376578.1:c.994C>T NP_001363507.1:p.Leu332Phe missense NM_001376579.1:c.994C>T NP_001363508.1:p.Leu332Phe missense NM_001376580.1:c.994C>T NP_001363509.1:p.Leu332Phe missense NM_001376581.1:c.994C>T NP_001363510.1:p.Leu332Phe missense NM_001376582.1:c.994C>T NP_001363511.1:p.Leu332Phe missense NM_001376583.1:c.994C>T NP_001363512.1:p.Leu332Phe missense NM_001376584.1:c.994C>T NP_001363513.1:p.Leu332Phe missense NM_001376585.1:c.994C>T NP_001363514.1:p.Leu332Phe missense NM_001376586.1:c.994C>T NP_001363515.1:p.Leu332Phe missense NM_001376593.1:c.994C>T NP_001363522.1:p.Leu332Phe missense NM_001376594.1:c.994C>T NP_001363523.1:p.Leu332Phe missense NM_001376595.1:c.994C>T NP_001363524.1:p.Leu332Phe missense NM_001376596.1:c.994C>T NP_001363525.1:p.Leu332Phe missense NM_001376597.1:c.994C>T NP_001363526.1:p.Leu332Phe missense NM_001376598.1:c.994C>T NP_001363527.1:p.Leu332Phe missense NM_001376599.1:c.994C>T NP_001363528.1:p.Leu332Phe missense NM_001376600.1:c.994C>T NP_001363529.1:p.Leu332Phe missense NM_001376601.1:c.994C>T NP_001363530.1:p.Leu332Phe missense NM_001376602.1:c.994C>T NP_001363531.1:p.Leu332Phe missense NM_001376603.1:c.994C>T NP_001363532.1:p.Leu332Phe missense NM_001376604.1:c.994C>T NP_001363533.1:p.Leu332Phe missense NM_001376605.1:c.994C>T NP_001363534.1:p.Leu332Phe missense NM_001376606.1:c.994C>T NP_001363535.1:p.Leu332Phe missense NM_001376607.1:c.994C>T NP_001363536.1:p.Leu332Phe missense NM_001376608.1:c.994C>T NP_001363537.1:p.Leu332Phe missense NM_001376609.1:c.994C>T NP_001363538.1:p.Leu332Phe missense NM_001376610.1:c.994C>T NP_001363539.1:p.Leu332Phe missense NM_001376611.1:c.994C>T NP_001363540.1:p.Leu332Phe missense NM_001376612.1:c.994C>T NP_001363541.1:p.Leu332Phe missense NM_001376613.1:c.994C>T NP_001363542.1:p.Leu332Phe missense NM_001376614.1:c.994C>T NP_001363543.1:p.Leu332Phe missense NM_001376615.1:c.994C>T NP_001363544.1:p.Leu332Phe missense NM_001376616.1:c.994C>T NP_001363545.1:p.Leu332Phe missense NM_001376617.1:c.994C>T NP_001363546.1:p.Leu332Phe missense NM_001376618.1:c.994C>T NP_001363547.1:p.Leu332Phe missense NM_001376619.1:c.994C>T NP_001363548.1:p.Leu332Phe missense NM_001376620.1:c.790C>T NP_001363549.1:p.Leu264Phe missense NM_001376621.1:c.994C>T NP_001363550.1:p.Leu332Phe missense NM_001376622.1:c.994C>T NP_001363551.1:p.Leu332Phe missense NM_001376623.1:c.994C>T NP_001363552.1:p.Leu332Phe missense NM_001376624.1:c.994C>T NP_001363553.1:p.Leu332Phe missense NM_001376625.1:c.994C>T NP_001363554.1:p.Leu332Phe missense NM_001376626.1:c.790C>T NP_001363555.1:p.Leu264Phe missense NM_001376627.1:c.790C>T NP_001363556.1:p.Leu264Phe missense NM_001376628.1:c.994C>T NP_001363557.1:p.Leu332Phe missense NM_001376629.1:c.994C>T NP_001363558.1:p.Leu332Phe missense NM_001376630.1:c.994C>T NP_001363559.1:p.Leu332Phe missense NM_001376631.1:c.994C>T NP_001363560.1:p.Leu332Phe missense NM_001376632.1:c.994C>T NP_001363561.1:p.Leu332Phe missense NM_001376633.1:c.994C>T NP_001363562.1:p.Leu332Phe missense NM_001376634.1:c.994C>T NP_001363563.1:p.Leu332Phe missense NM_001376635.1:c.790C>T NP_001363564.1:p.Leu264Phe missense NM_001376636.1:c.994C>T NP_001363565.1:p.Leu332Phe missense NM_001376637.1:c.994C>T NP_001363566.1:p.Leu332Phe missense NM_001376638.1:c.994C>T NP_001363567.1:p.Leu332Phe missense NM_001376639.1:c.994C>T NP_001363568.1:p.Leu332Phe missense NM_001376640.1:c.994C>T NP_001363569.1:p.Leu332Phe missense NM_001376641.1:c.994C>T NP_001363570.1:p.Leu332Phe missense NM_001376642.1:c.994C>T NP_001363571.1:p.Leu332Phe missense NM_001376643.1:c.994C>T NP_001363572.1:p.Leu332Phe missense NM_001376644.1:c.790C>T NP_001363573.1:p.Leu264Phe missense NM_001376645.1:c.994C>T NP_001363574.1:p.Leu332Phe missense NM_001376646.1:c.790C>T NP_001363575.1:p.Leu264Phe missense NM_001376647.1:c.790C>T NP_001363576.1:p.Leu264Phe missense NM_001376648.1:c.790C>T NP_001363577.1:p.Leu264Phe missense NM_001376649.1:c.994C>T NP_001363578.1:p.Leu332Phe missense NM_001376650.1:c.994C>T NP_001363579.1:p.Leu332Phe missense NM_001376651.1:c.994C>T NP_001363580.1:p.Leu332Phe missense NM_001376652.1:c.994C>T NP_001363581.1:p.Leu332Phe missense NM_001376653.1:c.994C>T NP_001363582.1:p.Leu332Phe missense NM_001376654.1:c.790C>T NP_001363583.1:p.Leu264Phe missense NM_001376655.1:c.994C>T NP_001363584.1:p.Leu332Phe missense NM_001376656.1:c.994C>T NP_001363585.1:p.Leu332Phe missense NM_001376657.1:c.790C>T NP_001363586.1:p.Leu264Phe missense NM_001376658.1:c.994C>T NP_001363587.1:p.Leu332Phe missense NM_001376659.1:c.790C>T NP_001363588.1:p.Leu264Phe missense NM_001376660.1:c.790C>T NP_001363589.1:p.Leu264Phe missense NM_001376661.1:c.994C>T NP_001363590.1:p.Leu332Phe missense NM_001376662.1:c.994C>T NP_001363591.1:p.Leu332Phe missense NM_001376663.1:c.328C>T NP_001363592.1:p.Leu110Phe missense NM_003682.4:c.994C>T NP_003673.3:p.Leu332Phe missense NM_130470.3:c.994C>T NP_569826.2:p.Leu332Phe missense NM_130471.3:c.994C>T NP_569827.2:p.Leu332Phe missense NM_130472.3:c.994C>T NP_569828.2:p.Leu332Phe missense NM_130473.3:c.994C>T NP_569829.2:p.Leu332Phe missense NM_130474.3:c.994C>T NP_569830.2:p.Leu332Phe missense NM_130475.3:c.994C>T NP_569831.1:p.Leu332Phe missense NM_130476.3:c.994C>T NP_569832.2:p.Leu332Phe missense NR_164835.1:n.1196C>T non-coding transcript variant NR_164836.1:n.1196C>T non-coding transcript variant NR_164837.1:n.1196C>T non-coding transcript variant NR_164838.1:n.1046C>T non-coding transcript variant NR_164839.1:n.1196C>T non-coding transcript variant NR_164840.1:n.1196C>T non-coding transcript variant NR_164841.1:n.1196C>T non-coding transcript variant NR_164842.1:n.1196C>T non-coding transcript variant NC_000011.10:g.47276762C>T NC_000011.9:g.47298313C>T NG_029462.1:g.12387C>T - Protein change
- L264F, L110F, L332F
- Other names
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- Canonical SPDI
- NC_000011.10:47276761:C:T
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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.
The Genome Aggregation Database (gnomAD) 0.00001
- 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 |
204 | 221 |
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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Uncertain significance (1) |
criteria provided, single submitter
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Oct 1, 2018 | RCV000994627.17 |
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
(Oct 01, 2018)
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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: SCV001148264.22
First in ClinVar: Feb 03, 2020 Last updated: May 12, 2024 |
Number of individuals with the variant: 4
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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 rs1402413143 ...
HelpRecord last updated May 12, 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.