ClinVar Genomic variation as it relates to human health
NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
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_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
Variation ID: 1709023 Accession: VCV001709023.1
- Type and length
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Duplication, 8 bp
- Location
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Cytogenetic: 1q22 1: 156136030-156136031 (GRCh38) [ NCBI UCSC ] 1: 156105821-156105822 (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 Oct 15, 2022 Oct 15, 2022 Dec 9, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_170707.4:c.1068_1075dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_733821.1:p.Tyr359fs frameshift NM_005572.4:c.1068_1075dup MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_005563.1:p.Tyr359fs frameshift NM_001257374.3:c.732_739dup NP_001244303.1:p.Tyr247fs frameshift NM_001282624.2:c.825_832dup NP_001269553.1:p.Tyr278fs frameshift NM_001282625.2:c.1068_1075dup NP_001269554.1:p.Tyr359fs frameshift NM_001282626.2:c.1068_1075dup NP_001269555.1:p.Tyr359fs frameshift NM_001406983.1:c.1068_1075dup NP_001393912.1:p.Tyr359Trpfs frameshift NM_001406984.1:c.1068_1075dup NP_001393913.1:p.Tyr359Trpfs frameshift NM_001406985.1:c.1068_1075dup NP_001393914.1:p.Tyr359Trpfs frameshift NM_001406986.1:c.825_832dup NP_001393915.1:p.Tyr278Trpfs frameshift NM_001406987.1:c.825_832dup NP_001393916.1:p.Tyr278Trpfs frameshift NM_001406988.1:c.771_778dup NP_001393917.1:p.Tyr260Trpfs frameshift NM_001406989.1:c.732_739dup NP_001393918.1:p.Tyr247Trpfs frameshift NM_001406990.1:c.510_517dup NP_001393919.1:p.Tyr173Trpfs frameshift NM_001406991.1:c.1068_1075dup NP_001393920.1:p.Tyr359Trpfs frameshift NM_001406992.1:c.1068_1075dup NP_001393921.1:p.Tyr359Trpfs frameshift NM_001406993.1:c.510_517dup NP_001393922.1:p.Tyr173Trpfs frameshift NM_001406994.1:c.444_451dup NP_001393923.1:p.Tyr151Trpfs frameshift NM_001406995.1:c.510_517dup NP_001393924.1:p.Tyr173Trpfs frameshift NM_001406996.1:c.510_517dup NP_001393925.1:p.Tyr173Trpfs frameshift NM_001406997.1:c.510_517dup NP_001393926.1:p.Tyr173Trpfs frameshift NM_001406998.1:c.732_739dup NP_001393927.1:p.Tyr247Trpfs frameshift NM_001406999.1:c.444_451dup NP_001393928.1:p.Tyr151Trpfs frameshift NM_001407000.1:c.444_451dup NP_001393929.1:p.Tyr151Trpfs frameshift NM_001407001.1:c.444_451dup NP_001393930.1:p.Tyr151Trpfs frameshift NM_001407002.1:c.510_517dup NP_001393931.1:p.Tyr173Trpfs frameshift NM_001407003.1:c.510_517dup NP_001393932.1:p.Tyr173Trpfs frameshift NM_170708.4:c.1068_1075dup NP_733822.1:p.Tyr359fs frameshift NR_047544.1:n.1709_1716dup NR_047545.1:n.956_963dup NC_000001.11:g.156136032_156136039dup NC_000001.10:g.156105823_156105830dup NG_008692.2:g.58460_58467dup LRG_254:g.58460_58467dup LRG_254t1:c.1068_1075dup LRG_254p1:p.Tyr359Trpfs LRG_254t2:c.1068_1075dup LRG_254p2:p.Tyr359Trpfs LRG_254t3:c.1068_1075dup LRG_254p3:p.Tyr359Trpfs - Protein change
- Y247fs, Y278fs, Y359fs
- Other names
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- Canonical SPDI
- NC_000001.11:156136030:TGGACGAGT:TGGACGAGTGGACGAGT
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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
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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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LMNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1810 | 2087 |
Conditions - Germline
Condition
Help
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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Likely pathogenic (1) |
criteria provided, single submitter
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Dec 9, 2021 | RCV002288307.1 |
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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Likely pathogenic
(Dec 09, 2021)
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criteria provided, single submitter
Method: clinical testing
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Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002579783.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Number of individuals with the variant: 1
Sex: female
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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 Mar 17, 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.