ClinVar Genomic variation as it relates to human health
NM_001370259.2(MEN1):c.1445del (p.Gly482fs)
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.1445del (p.Gly482fs)
Variation ID: 1772790 Accession: VCV001772790.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 11q13.1 11: 64804722 (GRCh38) [ NCBI UCSC ] 11: 64572194 (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 Nov 29, 2022 Nov 29, 2022 Aug 2, 2018 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001370259.2:c.1445del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001357188.2:p.Gly482fs frameshift NM_000244.4:c.1460del NP_000235.3:p.Gly487fs frameshift NM_001370251.2:c.1571del NP_001357180.2:p.Gly524fs frameshift NM_001370260.2:c.1445del NP_001357189.2:p.Gly482fs frameshift NM_001370261.2:c.1445del NP_001357190.2:p.Gly482fs frameshift NM_001370262.2:c.1340del NP_001357191.2:p.Gly447fs frameshift NM_001370263.2:c.1340del NP_001357192.2:p.Gly447fs frameshift NM_001407142.1:c.1568delG NP_001394071.1:p.Gly524Alafs frameshift NM_001407143.1:c.1568delG NP_001394072.1:p.Gly524Alafs frameshift NM_001407144.1:c.1568delG NP_001394073.1:p.Gly524Alafs frameshift NM_001407145.1:c.1457delG NP_001394074.1:p.Gly487Alafs frameshift NM_001407146.1:c.1442delG NP_001394075.1:p.Gly482Alafs frameshift NM_001407147.1:c.1442delG NP_001394076.1:p.Gly482Alafs frameshift NM_001407148.1:c.1337delG NP_001394077.1:p.Gly447Alafs frameshift NM_001407149.1:c.1337delG NP_001394078.1:p.Gly447Alafs frameshift NM_001407150.1:c.1583delG NP_001394079.1:p.Gly529Alafs frameshift NM_001407151.1:c.1463delG NP_001394080.1:p.Gly489Alafs frameshift NM_001407152.1:c.1277delG NP_001394081.1:p.Gly427Alafs frameshift NM_130799.2:c.1445delG frameshift NM_130799.3:c.1445del NP_570711.2:p.Gly482fs frameshift NM_130800.3:c.1460del NP_570712.2:p.Gly487fs frameshift NM_130801.3:c.1460del NP_570713.2:p.Gly487fs frameshift NM_130802.3:c.1460del NP_570714.2:p.Gly487fs frameshift NM_130803.3:c.1460del NP_570715.2:p.Gly487fs frameshift NM_130804.3:c.1460del NP_570716.2:p.Gly487fs frameshift NR_176284.1:n.1640delG NR_176285.1:n.1652delG NR_176286.1:n.1655delG NR_176287.1:n.1913delG NC_000011.10:g.64804725del NC_000011.9:g.64572197del NG_008929.1:g.11573del NG_033040.2:g.3492del LRG_509:g.11573del LRG_509t1:c.1457del LRG_509p1:p.Gly487Alafs LRG_509t2:c.1442del LRG_509p2:p.Gly482Alafs - Protein change
- G524fs, G447fs, G482fs, G487fs
- Other names
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- Canonical SPDI
- NC_000011.10:64804721:CCCC:CCC
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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
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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
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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 |
2443 | 2460 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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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Pathogenic (1) |
criteria provided, single submitter
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Aug 2, 2018 | RCV002394446.1 |
Submissions - Germline
Classification
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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
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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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Pathogenic
(Aug 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002700253.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The c.1445delG pathogenic mutation, located in coding exon 9 of the MEN1 gene, results from a deletion of one nucleotide at nucleotide position 1445, causing … (more)
The c.1445delG pathogenic mutation, located in coding exon 9 of the MEN1 gene, results from a deletion of one nucleotide at nucleotide position 1445, causing a translational frameshift with a predicted alternate stop codon (p.G482Afs*77). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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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 Dec 25, 2023
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.