ClinVar Genomic variation as it relates to human health
NM_001130965.3(SUN1):c.235A>G (p.Ser79Gly)
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.235A>G (p.Ser79Gly)
Variation ID: 461656 Accession: VCV000461656.15
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p22.3 7: 838955 (GRCh38) [ NCBI UCSC ] 7: 878592 (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 Apr 15, 2024 Nov 27, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001130965.3:c.235A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001124437.1:p.Ser79Gly missense NM_001171944.2:c.235A>G NP_001165415.1:p.Ser79Gly missense NM_001171945.2:c.298A>G NP_001165416.1:p.Ser100Gly missense NM_001171946.2:c.235A>G NP_001165417.1:p.Ser79Gly missense NM_001367633.1:c.235A>G NP_001354562.1:p.Ser79Gly missense NM_001367634.1:c.235A>G NP_001354563.1:p.Ser79Gly missense NM_001367635.1:c.-223A>G 5 prime UTR NM_001367636.1:c.85A>G NP_001354565.1:p.Ser29Gly missense NM_001367637.1:c.85A>G NP_001354566.1:p.Ser29Gly missense NM_001367638.1:c.235A>G NP_001354567.1:p.Ser79Gly missense NM_001367639.1:c.-301-2991A>G intron variant NM_001367640.1:c.235A>G NP_001354569.1:p.Ser79Gly missense NM_001367641.1:c.235A>G NP_001354570.1:p.Ser79Gly missense NM_001367642.1:c.235A>G NP_001354571.1:p.Ser79Gly missense NM_001367643.1:c.235A>G NP_001354572.1:p.Ser79Gly missense NM_001367644.1:c.85A>G NP_001354573.1:p.Ser29Gly missense NM_001367645.1:c.85A>G NP_001354574.1:p.Ser29Gly missense NM_001367646.1:c.85A>G NP_001354575.1:p.Ser29Gly missense NM_001367647.1:c.85A>G NP_001354576.1:p.Ser29Gly missense NM_001367648.1:c.85A>G NP_001354577.1:p.Ser29Gly missense NM_001367649.1:c.85A>G NP_001354578.1:p.Ser29Gly missense NM_001367651.1:c.454A>G NP_001354580.1:p.Ser152Gly missense NM_001367653.1:c.235A>G NP_001354582.1:p.Ser79Gly missense NM_001367655.1:c.85A>G NP_001354584.1:p.Ser29Gly missense NM_001367658.1:c.-527A>G 5 prime UTR NM_001367660.1:c.85A>G NP_001354589.1:p.Ser29Gly missense NM_001367662.1:c.85A>G NP_001354591.1:p.Ser29Gly missense NM_001367664.1:c.235A>G NP_001354593.1:p.Ser79Gly missense NM_001367665.1:c.235A>G NP_001354594.1:p.Ser79Gly missense NM_001367666.1:c.85A>G NP_001354595.1:p.Ser29Gly missense NM_001367667.1:c.85A>G NP_001354596.1:p.Ser29Gly missense NM_001367668.1:c.85A>G NP_001354597.1:p.Ser29Gly missense NM_001367669.1:c.235A>G NP_001354598.1:p.Ser79Gly missense NM_001367670.1:c.85A>G NP_001354599.1:p.Ser29Gly missense NM_001367671.1:c.85A>G NP_001354600.1:p.Ser29Gly missense NM_001367672.1:c.235A>G NP_001354601.1:p.Ser79Gly missense NM_001367673.1:c.85A>G NP_001354602.1:p.Ser29Gly missense NM_001367674.1:c.235A>G NP_001354603.1:p.Ser79Gly missense NM_001367675.1:c.235A>G NP_001354604.1:p.Ser79Gly missense NM_001367676.1:c.235A>G NP_001354605.1:p.Ser79Gly missense NM_001367677.1:c.235A>G NP_001354606.1:p.Ser79Gly missense NM_001367678.1:c.235A>G NP_001354607.1:p.Ser79Gly missense NM_001367679.1:c.85A>G NP_001354608.1:p.Ser29Gly missense NM_001367680.1:c.85A>G NP_001354609.1:p.Ser29Gly missense NM_001367681.1:c.85A>G NP_001354610.1:p.Ser29Gly missense NM_001367682.1:c.235A>G NP_001354611.1:p.Ser79Gly missense NM_001367683.1:c.235A>G NP_001354612.1:p.Ser79Gly missense NM_001367684.1:c.85A>G NP_001354613.1:p.Ser29Gly missense NM_001367685.1:c.235A>G NP_001354614.1:p.Ser79Gly missense NM_001367686.1:c.85A>G NP_001354615.1:p.Ser29Gly missense NM_001367687.1:c.235A>G NP_001354616.1:p.Ser79Gly missense NM_001367688.1:c.235A>G NP_001354617.1:p.Ser79Gly missense NM_001367689.1:c.85A>G NP_001354618.1:p.Ser29Gly missense NM_001367690.1:c.235A>G NP_001354619.1:p.Ser79Gly missense NM_001367691.1:c.85A>G NP_001354620.1:p.Ser29Gly missense NM_001367692.1:c.235A>G NP_001354621.1:p.Ser79Gly missense NM_001367693.1:c.235A>G NP_001354622.1:p.Ser79Gly missense NM_001367694.1:c.235A>G NP_001354623.1:p.Ser79Gly missense NM_001367695.1:c.78-2991A>G intron variant NM_001367696.1:c.235A>G NP_001354625.1:p.Ser79Gly missense NM_001367697.1:c.235A>G NP_001354626.1:p.Ser79Gly missense NM_001367698.1:c.235A>G NP_001354627.1:p.Ser79Gly missense NM_001367699.1:c.235A>G NP_001354628.1:p.Ser79Gly missense NM_001367700.1:c.235A>G NP_001354629.1:p.Ser79Gly missense NM_001367701.1:c.85A>G NP_001354630.1:p.Ser29Gly missense NM_001367702.1:c.235A>G NP_001354631.1:p.Ser79Gly missense NM_001367703.1:c.235A>G NP_001354632.1:p.Ser79Gly missense NM_001367704.1:c.235A>G NP_001354633.1:p.Ser79Gly missense NM_001367705.1:c.235A>G NP_001354634.1:p.Ser79Gly missense NM_001367706.1:c.85A>G NP_001354635.1:p.Ser29Gly missense NM_025154.6:c.85A>G NP_079430.3:p.Ser29Gly missense NR_160281.1:n.286A>G non-coding transcript variant NR_160282.1:n.286A>G non-coding transcript variant NR_160283.1:n.286A>G non-coding transcript variant NC_000007.14:g.838955A>G NC_000007.13:g.878592A>G - Protein change
- S79G, S100G, S29G, S152G
- Other names
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- Canonical SPDI
- NC_000007.14:838954:A:G
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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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0.00020 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00062
The Genome Aggregation Database (gnomAD) 0.00068
The Genome Aggregation Database (gnomAD), exomes 0.00106
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00145
Exome Aggregation Consortium (ExAC) 0.00149
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
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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SUN1 | - | - |
GRCh38 GRCh37 |
532 | 603 |
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. |
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Likely benign (1) |
criteria provided, single submitter
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Nov 27, 2023 | RCV000549912.11 | |
Likely benign (1) |
criteria provided, single submitter
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Mar 1, 2023 | RCV003431081.4 |
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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Likely benign
(Nov 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: SCV000634445.8
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
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Likely benign
(Mar 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004158704.4
First in ClinVar: Nov 20, 2023 Last updated: Apr 15, 2024 |
Comment:
SUN1: BP4, BS2
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 rs199999269 ...
HelpRecord last updated Apr 15, 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.