ClinVar Genomic variation as it relates to human health
NM_001370259.2(MEN1):c.1382_1390dup (p.Glu463_Ala464insGluAlaGlu)
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_001370259.2(MEN1):c.1382_1390dup (p.Glu463_Ala464insGluAlaGlu)
Variation ID: 2884037 Accession: VCV002884037.1
- Type and length
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Duplication, 9 bp
- Location
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Cytogenetic: 11q13.1 11: 64804776-64804777 (GRCh38) [ NCBI UCSC ] 11: 64572248-64572249 (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 Sep 10, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370259.2:c.1382_1390dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357188.2:p.Glu463_Ala464insGluAlaGlu inframe insertion NM_000244.4:c.1397_1405dup NP_000235.3:p.Glu468_Ala469insGluAlaGlu inframe insertion NM_001370251.2:c.1508_1516dup NP_001357180.2:p.Glu505_Ala506insGluAlaGlu inframe insertion NM_001370260.2:c.1382_1390dup NP_001357189.2:p.Glu463_Ala464insGluAlaGlu inframe insertion NM_001370261.2:c.1382_1390dup NP_001357190.2:p.Glu463_Ala464insGluAlaGlu inframe insertion NM_001370262.2:c.1277_1285dup NP_001357191.2:p.Glu428_Ala429insGluAlaGlu inframe insertion NM_001370263.2:c.1277_1285dup NP_001357192.2:p.Glu428_Ala429insGluAlaGlu inframe insertion NM_001407142.1:c.1508_1516dup NP_001394071.1:p.Glu505_Ala506insGluAlaGlu inframe insertion NM_001407143.1:c.1508_1516dup NP_001394072.1:p.Glu505_Ala506insGluAlaGlu inframe insertion NM_001407144.1:c.1508_1516dup NP_001394073.1:p.Glu505_Ala506insGluAlaGlu inframe insertion NM_001407145.1:c.1397_1405dup NP_001394074.1:p.Glu468_Ala469insGluAlaGlu inframe insertion NM_001407146.1:c.1382_1390dup NP_001394075.1:p.Glu463_Ala464insGluAlaGlu inframe insertion NM_001407147.1:c.1382_1390dup NP_001394076.1:p.Glu463_Ala464insGluAlaGlu inframe insertion NM_001407148.1:c.1277_1285dup NP_001394077.1:p.Glu428_Ala429insGluAlaGlu inframe insertion NM_001407149.1:c.1277_1285dup NP_001394078.1:p.Glu428_Ala429insGluAlaGlu inframe insertion NM_001407150.1:c.1523_1531dup NP_001394079.1:p.Glu510_Ala511insGluAlaGlu inframe insertion NM_001407151.1:c.1403_1411dup NP_001394080.1:p.Glu470_Ala471insGluAlaGlu inframe insertion NM_001407152.1:c.1217_1225dup NP_001394081.1:p.Glu408_Ala409insGluAlaGlu inframe insertion NM_130799.3:c.1382_1390dup NP_570711.2:p.Glu463_Ala464insGluAlaGlu inframe insertion NM_130800.3:c.1397_1405dup NP_570712.2:p.Glu468_Ala469insGluAlaGlu inframe insertion NM_130801.3:c.1397_1405dup NP_570713.2:p.Glu468_Ala469insGluAlaGlu inframe insertion NM_130802.3:c.1397_1405dup NP_570714.2:p.Glu468_Ala469insGluAlaGlu inframe insertion NM_130803.3:c.1397_1405dup NP_570715.2:p.Glu468_Ala469insGluAlaGlu inframe insertion NM_130804.3:c.1397_1405dup NP_570716.2:p.Glu468_Ala469insGluAlaGlu inframe insertion NR_176284.1:n.1580_1588dup non-coding transcript variant NR_176285.1:n.1592_1600dup non-coding transcript variant NR_176286.1:n.1595_1603dup non-coding transcript variant NR_176287.1:n.1853_1861dup non-coding transcript variant NC_000011.10:g.64804778_64804786dup NC_000011.9:g.64572250_64572258dup NG_008929.1:g.11510_11518dup NG_033040.1:g.3457_3465dup NG_033040.2:g.3429_3437dup LRG_509:g.11510_11518dup LRG_509t1:c.1396_1404dup LRG_509p1:p.Glu468_Ala469insGluAlaGlu LRG_509t2:c.1381_1389dup LRG_509p2:p.Glu463_Ala464insGluAlaGlu - Protein change
- Other names
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- Canonical SPDI
- NC_000011.10:64804776:CCTCGGCCTC:CCTCGGCCTCCTCGGCCTC
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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
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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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MEN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2529 | 2546 |
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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Sep 10, 2023 | RCV003632436.1 |
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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Uncertain significance
(Sep 10, 2023)
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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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Invitae
Accession: SCV004509509.1
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 been observed in individual(s) with primary hyperparathyroidism (PMID: 30339208). This variant is not present in population databases (gnomAD no frequency). This variant, c.1382_1390dup, results in the insertion of 3 amino acid(s) of the MEN1 protein (p.Glu461_Glu463dup), 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
HelpTitle | Author | Journal | Year | Link |
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UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population. | Romanet P | The Journal of clinical endocrinology and metabolism | 2019 | PMID: 30339208 |
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.