ClinVar Genomic variation as it relates to human health
NM_001130965.3(SUN1):c.220G>A (p.Asp74Asn)
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_001130965.3(SUN1):c.220G>A (p.Asp74Asn)
Variation ID: 461651 Accession: VCV000461651.6
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p22.3 7: 838940 (GRCh38) [ NCBI UCSC ] 7: 878577 (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 Dec 26, 2017 Feb 20, 2024 Mar 27, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001130965.3:c.220G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001124437.1:p.Asp74Asn missense NM_001171944.2:c.220G>A NP_001165415.1:p.Asp74Asn missense NM_001171945.2:c.283G>A NP_001165416.1:p.Asp95Asn missense NM_001171946.2:c.220G>A NP_001165417.1:p.Asp74Asn missense NM_001367633.1:c.220G>A NP_001354562.1:p.Asp74Asn missense NM_001367634.1:c.220G>A NP_001354563.1:p.Asp74Asn missense NM_001367635.1:c.-238G>A 5 prime UTR NM_001367636.1:c.70G>A NP_001354565.1:p.Asp24Asn missense NM_001367637.1:c.70G>A NP_001354566.1:p.Asp24Asn missense NM_001367638.1:c.220G>A NP_001354567.1:p.Asp74Asn missense NM_001367639.1:c.-301-3006G>A intron variant NM_001367640.1:c.220G>A NP_001354569.1:p.Asp74Asn missense NM_001367641.1:c.220G>A NP_001354570.1:p.Asp74Asn missense NM_001367642.1:c.220G>A NP_001354571.1:p.Asp74Asn missense NM_001367643.1:c.220G>A NP_001354572.1:p.Asp74Asn missense NM_001367644.1:c.70G>A NP_001354573.1:p.Asp24Asn missense NM_001367645.1:c.70G>A NP_001354574.1:p.Asp24Asn missense NM_001367646.1:c.70G>A NP_001354575.1:p.Asp24Asn missense NM_001367647.1:c.70G>A NP_001354576.1:p.Asp24Asn missense NM_001367648.1:c.70G>A NP_001354577.1:p.Asp24Asn missense NM_001367649.1:c.70G>A NP_001354578.1:p.Asp24Asn missense NM_001367651.1:c.439G>A NP_001354580.1:p.Asp147Asn missense NM_001367653.1:c.220G>A NP_001354582.1:p.Asp74Asn missense NM_001367655.1:c.70G>A NP_001354584.1:p.Asp24Asn missense NM_001367658.1:c.-542G>A 5 prime UTR NM_001367660.1:c.70G>A NP_001354589.1:p.Asp24Asn missense NM_001367662.1:c.70G>A NP_001354591.1:p.Asp24Asn missense NM_001367664.1:c.220G>A NP_001354593.1:p.Asp74Asn missense NM_001367665.1:c.220G>A NP_001354594.1:p.Asp74Asn missense NM_001367666.1:c.70G>A NP_001354595.1:p.Asp24Asn missense NM_001367667.1:c.70G>A NP_001354596.1:p.Asp24Asn missense NM_001367668.1:c.70G>A NP_001354597.1:p.Asp24Asn missense NM_001367669.1:c.220G>A NP_001354598.1:p.Asp74Asn missense NM_001367670.1:c.70G>A NP_001354599.1:p.Asp24Asn missense NM_001367671.1:c.70G>A NP_001354600.1:p.Asp24Asn missense NM_001367672.1:c.220G>A NP_001354601.1:p.Asp74Asn missense NM_001367673.1:c.70G>A NP_001354602.1:p.Asp24Asn missense NM_001367674.1:c.220G>A NP_001354603.1:p.Asp74Asn missense NM_001367675.1:c.220G>A NP_001354604.1:p.Asp74Asn missense NM_001367676.1:c.220G>A NP_001354605.1:p.Asp74Asn missense NM_001367677.1:c.220G>A NP_001354606.1:p.Asp74Asn missense NM_001367678.1:c.220G>A NP_001354607.1:p.Asp74Asn missense NM_001367679.1:c.70G>A NP_001354608.1:p.Asp24Asn missense NM_001367680.1:c.70G>A NP_001354609.1:p.Asp24Asn missense NM_001367681.1:c.70G>A NP_001354610.1:p.Asp24Asn missense NM_001367682.1:c.220G>A NP_001354611.1:p.Asp74Asn missense NM_001367683.1:c.220G>A NP_001354612.1:p.Asp74Asn missense NM_001367684.1:c.70G>A NP_001354613.1:p.Asp24Asn missense NM_001367685.1:c.220G>A NP_001354614.1:p.Asp74Asn missense NM_001367686.1:c.70G>A NP_001354615.1:p.Asp24Asn missense NM_001367687.1:c.220G>A NP_001354616.1:p.Asp74Asn missense NM_001367688.1:c.220G>A NP_001354617.1:p.Asp74Asn missense NM_001367689.1:c.70G>A NP_001354618.1:p.Asp24Asn missense NM_001367690.1:c.220G>A NP_001354619.1:p.Asp74Asn missense NM_001367691.1:c.70G>A NP_001354620.1:p.Asp24Asn missense NM_001367692.1:c.220G>A NP_001354621.1:p.Asp74Asn missense NM_001367693.1:c.220G>A NP_001354622.1:p.Asp74Asn missense NM_001367694.1:c.220G>A NP_001354623.1:p.Asp74Asn missense NM_001367695.1:c.78-3006G>A intron variant NM_001367696.1:c.220G>A NP_001354625.1:p.Asp74Asn missense NM_001367697.1:c.220G>A NP_001354626.1:p.Asp74Asn missense NM_001367698.1:c.220G>A NP_001354627.1:p.Asp74Asn missense NM_001367699.1:c.220G>A NP_001354628.1:p.Asp74Asn missense NM_001367700.1:c.220G>A NP_001354629.1:p.Asp74Asn missense NM_001367701.1:c.70G>A NP_001354630.1:p.Asp24Asn missense NM_001367702.1:c.220G>A NP_001354631.1:p.Asp74Asn missense NM_001367703.1:c.220G>A NP_001354632.1:p.Asp74Asn missense NM_001367704.1:c.220G>A NP_001354633.1:p.Asp74Asn missense NM_001367705.1:c.220G>A NP_001354634.1:p.Asp74Asn missense NM_001367706.1:c.70G>A NP_001354635.1:p.Asp24Asn missense NM_025154.6:c.70G>A NP_079430.3:p.Asp24Asn missense NR_160281.1:n.271G>A non-coding transcript variant NR_160282.1:n.271G>A non-coding transcript variant NR_160283.1:n.271G>A non-coding transcript variant NC_000007.14:g.838940G>A NC_000007.13:g.878577G>A - Protein change
- D74N, D147N, D24N, D95N
- Other names
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- Canonical SPDI
- NC_000007.14:838939:G:A
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00005
Exome Aggregation Consortium (ExAC) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
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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SUN1 | - | - |
GRCh38 GRCh37 |
537 | 610 |
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
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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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Mar 27, 2023 | RCV000557468.6 |
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
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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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Uncertain significance
(Mar 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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Emery-Dreifuss muscular dystrophy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000634440.4
First in ClinVar: Dec 26, 2017 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 461651). This variant has not been reported in the literature in individuals affected with SUN1-related conditions. This variant is present in population databases (rs374767640, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 74 of the SUN1 protein (p.Asp74Asn). (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 rs374767640 ...
HelpRecord last updated Feb 28, 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.