ClinVar Genomic variation as it relates to human health
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
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_018834.6(MATR3):c.2302_2304del (p.Glu768del)
Variation ID: 2807926 Accession: VCV002807926.1
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 5q31.2 5: 139325593-139325595 (GRCh38) [ NCBI UCSC ] 5: 138661282-138661284 (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 20, 2024 Feb 20, 2024 Oct 12, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_018834.6:c.2302_2304del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061322.2:p.Glu768del inframe deletion NM_001194954.2:c.2302_2304del NP_001181883.1:p.Glu768del inframe deletion NM_001194955.2:c.2302_2304del NP_001181884.1:p.Glu768del inframe deletion NM_001194956.2:c.1438_1440del NP_001181885.1:p.Glu480del inframe deletion NM_001282278.2:c.1288_1290del NP_001269207.1:p.Glu430del inframe deletion NM_001400441.1:c.2446_2448del NP_001387370.1:p.Glu816del inframe deletion NM_001400442.1:c.2446_2448del NP_001387371.1:p.Glu816del inframe deletion NM_001400443.1:c.2446_2448del NP_001387372.1:p.Glu816del inframe deletion NM_001400444.1:c.2446_2448del NP_001387373.1:p.Glu816del inframe deletion NM_001400445.1:c.2446_2448del NP_001387374.1:p.Glu816del inframe deletion NM_001400447.1:c.2302_2304del NP_001387376.1:p.Glu768del inframe deletion NM_001400448.1:c.2302_2304del NP_001387377.1:p.Glu768del inframe deletion NM_001400450.1:c.2302_2304del NP_001387379.1:p.Glu768del inframe deletion NM_001400451.1:c.2302_2304del NP_001387380.1:p.Glu768del inframe deletion NM_001400452.1:c.2302_2304del NP_001387381.1:p.Glu768del inframe deletion NM_001400453.1:c.2302_2304del NP_001387382.1:p.Glu768del inframe deletion NM_001400454.1:c.2302_2304del NP_001387383.1:p.Glu768del inframe deletion NM_001400455.1:c.2302_2304del NP_001387384.1:p.Glu768del inframe deletion NM_001400456.1:c.2302_2304del NP_001387385.1:p.Glu768del inframe deletion NM_001400457.1:c.2302_2304del NP_001387386.1:p.Glu768del inframe deletion NM_001400458.1:c.2302_2304del NP_001387387.1:p.Glu768del inframe deletion NM_001400459.1:c.1441_1443del NP_001387388.1:p.Glu481del inframe deletion NM_001400460.1:c.1432_1434del NP_001387389.1:p.Glu478del inframe deletion NM_001400461.1:c.1402_1404del NP_001387390.1:p.Glu468del inframe deletion NM_001400462.1:c.1288_1290del NP_001387391.1:p.Glu430del inframe deletion NM_001400463.1:c.1288_1290del NP_001387392.1:p.Glu430del inframe deletion NM_001400464.1:c.1288_1290del NP_001387393.1:p.Glu430del inframe deletion NM_001400465.1:c.1288_1290del NP_001387394.1:p.Glu430del inframe deletion NM_001400466.1:c.1288_1290del NP_001387395.1:p.Glu430del inframe deletion NM_001400467.1:c.1288_1290del NP_001387396.1:p.Glu430del inframe deletion NM_199189.3:c.2302_2304del NP_954659.1:p.Glu768del inframe deletion NR_036535.1:n.1991_1993delGAG NC_000005.10:g.139325593_139325595del NC_000005.9:g.138661282_138661284del NG_012846.1:g.56491_56493del - Protein change
- E430del, E481del, E468del, E478del, E480del, E768del, E816del
- Other names
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- Canonical SPDI
- NC_000005.10:139325592:GAG:
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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
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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
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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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MATR3 | - | - |
GRCh38 GRCh37 |
415 | 535 |
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
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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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Uncertain significance (1) |
criteria provided, single submitter
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Oct 12, 2022 | RCV003630253.1 |
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
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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
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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 12, 2022)
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criteria provided, single submitter
Method: clinical testing
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Amyotrophic lateral sclerosis type 21
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV004404999.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this … (more)
This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant, c.2302_2304del, results in the deletion of 1 amino acid(s) of the MATR3 protein (p.Glu768del), but otherwise preserves the integrity of the reading frame. (less)
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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 Feb 29, 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.