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 MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the MEN1 mRNA. It is expected to extend the length of the MEN1 protein by 66 additional amino acid residues.
ClinVar Genomic variation as it relates to human health
NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)
Variation ID: 2815238 Accession: VCV002815238.1
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 11q13.1 11: 64804335-64804336 (GRCh38) [ NCBI UCSC ] 11: 64571807-64571808 (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 Mar 2, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001370259.2:c.1831_1832del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357188.2:p.Ter611AsnextTer? frameshift stop lost NM_000244.4:c.1846_1847del NP_000235.3:p.Ter616AsnextTer? frameshift stop lost NM_001370251.2:c.1957_1958del NP_001357180.2:p.Ter653AsnextTer? frameshift stop lost NM_001370260.2:c.1831_1832del NP_001357189.2:p.Ter611AsnextTer? frameshift stop lost NM_001370261.2:c.1831_1832del NP_001357190.2:p.Ter611AsnextTer? frameshift stop lost NM_001370262.2:c.1726_1727del NP_001357191.2:p.Ter576AsnextTer? frameshift stop lost NM_001370263.2:c.1726_1727del NP_001357192.2:p.Ter576AsnextTer? frameshift stop lost NM_001407142.1:c.1957_1958del NP_001394071.1:p.Ter653AsnextTer? frameshift stop lost NM_001407143.1:c.1957_1958del NP_001394072.1:p.Ter653AsnextTer? frameshift stop lost NM_001407144.1:c.1957_1958del NP_001394073.1:p.Ter653AsnextTer? frameshift stop lost NM_001407145.1:c.1846_1847del NP_001394074.1:p.Ter616AsnextTer? frameshift stop lost NM_001407146.1:c.1831_1832del NP_001394075.1:p.Ter611AsnextTer? frameshift stop lost NM_001407147.1:c.1831_1832del NP_001394076.1:p.Ter611AsnextTer? frameshift stop lost NM_001407148.1:c.1726_1727del NP_001394077.1:p.Ter576AsnextTer? frameshift stop lost NM_001407149.1:c.1726_1727del NP_001394078.1:p.Ter576AsnextTer? frameshift stop lost NM_001407150.1:c.1972_1973del NP_001394079.1:p.Ter658AsnextTer? frameshift stop lost NM_001407151.1:c.1852_1853del NP_001394080.1:p.Ter618AsnextTer? frameshift stop lost NM_001407152.1:c.1666_1667del NP_001394081.1:p.Ter556AsnextTer? frameshift stop lost NM_130799.3:c.1831_1832del NP_570711.2:p.Ter611AsnextTer? frameshift stop lost NM_130800.3:c.1846_1847del NP_570712.2:p.Ter616AsnextTer? frameshift stop lost NM_130801.3:c.1846_1847del NP_570713.2:p.Ter616AsnextTer? frameshift stop lost NM_130802.3:c.1846_1847del NP_570714.2:p.Ter616AsnextTer? frameshift stop lost NM_130803.3:c.1846_1847del NP_570715.2:p.Ter616AsnextTer? frameshift stop lost NM_130804.3:c.1846_1847del NP_570716.2:p.Ter616AsnextTer? frameshift stop lost NR_176284.1:n.2029_2030del non-coding transcript variant NR_176285.1:n.2041_2042del non-coding transcript variant NR_176286.1:n.2044_2045del non-coding transcript variant NR_176287.1:n.2302_2303del non-coding transcript variant NC_000011.10:g.64804335_64804336del NC_000011.9:g.64571807_64571808del NG_008929.1:g.11959_11960del NG_033040.1:g.3906_3907del NG_033040.2:g.3878_3879del LRG_509:g.11959_11960del LRG_509t1:c.1846_1847del LRG_509p1:p.Ter616Asnfs LRG_509t2:c.1831_1832del LRG_509p2:p.Ter611Asnfs - Protein change
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- Other names
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- Canonical SPDI
- NC_000011.10:64804334:CA:
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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. |
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| MEN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2580 | 2601 | |
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Mar 2, 2023 | RCV003631694.2 |
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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Uncertain significance
(Mar 02, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Multiple endocrine neoplasia, type 1
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004414194.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
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 … (more)
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 MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the MEN1 mRNA. It is expected to extend the length of the MEN1 protein by 66 additional amino acid residues. (less)
|
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:
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 MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the MEN1 mRNA. It is expected to extend the length of the MEN1 protein by 66 additional amino acid residues.
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 Sep 30, 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.