ClinVar Genomic variation as it relates to human health
NM_001130965.3(SUN1):c.2068G>A (p.Ala690Thr)
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.2068G>A (p.Ala690Thr)
Variation ID: 2207123 Accession: VCV002207123.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7p22.3 7: 869436 (GRCh38) [ NCBI UCSC ] 7: 909073 (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 8, 2023 May 1, 2024 Jul 28, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001130965.3:c.2068G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001124437.1:p.Ala690Thr missense NM_001171944.2:c.1759G>A NP_001165415.1:p.Ala587Thr missense NM_001367633.1:c.2068G>A NP_001354562.1:p.Ala690Thr missense NM_001367634.1:c.2068G>A NP_001354563.1:p.Ala690Thr missense NM_001367635.1:c.1717G>A NP_001354564.1:p.Ala573Thr missense NM_001367636.1:c.2308G>A NP_001354565.1:p.Ala770Thr missense NM_001367638.1:c.2176G>A NP_001354567.1:p.Ala726Thr missense NM_001367639.1:c.1609G>A NP_001354568.1:p.Ala537Thr missense NM_001367640.1:c.2248G>A NP_001354569.1:p.Ala750Thr missense NM_001367641.1:c.2350G>A NP_001354570.1:p.Ala784Thr missense NM_001367642.1:c.2053G>A NP_001354571.1:p.Ala685Thr missense NM_001367643.1:c.2260G>A NP_001354572.1:p.Ala754Thr missense NM_001367644.1:c.1999G>A NP_001354573.1:p.Ala667Thr missense NM_001367645.1:c.2116G>A NP_001354574.1:p.Ala706Thr missense NM_001367646.1:c.2197G>A NP_001354575.1:p.Ala733Thr missense NM_001367647.1:c.2110G>A NP_001354576.1:p.Ala704Thr missense NM_001367648.1:c.1930G>A NP_001354577.1:p.Ala644Thr missense NM_001367649.1:c.2113G>A NP_001354578.1:p.Ala705Thr missense NM_001367651.1:c.2482G>A NP_001354580.1:p.Ala828Thr missense NM_001367653.1:c.2068G>A NP_001354582.1:p.Ala690Thr missense NM_001367655.1:c.2278G>A NP_001354584.1:p.Ala760Thr missense NM_001367658.1:c.1354G>A NP_001354587.1:p.Ala452Thr missense NM_001367660.1:c.1885G>A NP_001354589.1:p.Ala629Thr missense NM_001367662.1:c.1915G>A NP_001354591.1:p.Ala639Thr missense NM_001367664.1:c.2179G>A NP_001354593.1:p.Ala727Thr missense NM_001367665.1:c.2065G>A NP_001354594.1:p.Ala689Thr missense NM_001367666.1:c.2311G>A NP_001354595.1:p.Ala771Thr missense NM_001367667.1:c.2029G>A NP_001354596.1:p.Ala677Thr missense NM_001367668.1:c.2110G>A NP_001354597.1:p.Ala704Thr missense NM_001367669.1:c.2095G>A NP_001354598.1:p.Ala699Thr missense NM_001367670.1:c.1918G>A NP_001354599.1:p.Ala640Thr missense NM_001367671.1:c.1915G>A NP_001354600.1:p.Ala639Thr missense NM_001367672.1:c.2035G>A NP_001354601.1:p.Ala679Thr missense NM_001367673.1:c.2200G>A NP_001354602.1:p.Ala734Thr missense NM_001367674.1:c.2266G>A NP_001354603.1:p.Ala756Thr missense NM_001367675.1:c.2218G>A NP_001354604.1:p.Ala740Thr missense NM_001367676.1:c.2251G>A NP_001354605.1:p.Ala751Thr missense NM_001367677.1:c.2374G>A NP_001354606.1:p.Ala792Thr missense NM_001367678.1:c.2458G>A NP_001354607.1:p.Ala820Thr missense NM_001367679.1:c.2026G>A NP_001354608.1:p.Ala676Thr missense NM_001367680.1:c.2002G>A NP_001354609.1:p.Ala668Thr missense NM_001367681.1:c.2116G>A NP_001354610.1:p.Ala706Thr missense NM_001367682.1:c.2350G>A NP_001354611.1:p.Ala784Thr missense NM_001367683.1:c.2152G>A NP_001354612.1:p.Ala718Thr missense NM_001367684.1:c.2227G>A NP_001354613.1:p.Ala743Thr missense NM_001367685.1:c.2179G>A NP_001354614.1:p.Ala727Thr missense NM_001367686.1:c.1900G>A NP_001354615.1:p.Ala634Thr missense NM_001367688.1:c.2149G>A NP_001354617.1:p.Ala717Thr missense NM_001367689.1:c.2029G>A NP_001354618.1:p.Ala677Thr missense NM_001367690.1:c.2359G>A NP_001354619.1:p.Ala787Thr missense NM_001367691.1:c.2308G>A NP_001354620.1:p.Ala770Thr missense NM_001367692.1:c.2377G>A NP_001354621.1:p.Ala793Thr missense NM_001367693.1:c.2263G>A NP_001354622.1:p.Ala755Thr missense NM_001367694.1:c.2065G>A NP_001354623.1:p.Ala689Thr missense NM_001367695.1:c.1990G>A NP_001354624.1:p.Ala664Thr missense NM_001367696.1:c.2146G>A NP_001354625.1:p.Ala716Thr missense NM_001367697.1:c.2263G>A NP_001354626.1:p.Ala755Thr missense NM_001367698.1:c.2347G>A NP_001354627.1:p.Ala783Thr missense NM_001367699.1:c.2458G>A NP_001354628.1:p.Ala820Thr missense NM_001367700.1:c.2278G>A NP_001354629.1:p.Ala760Thr missense NM_001367701.1:c.1969G>A NP_001354630.1:p.Ala657Thr missense NM_001367702.1:c.2080G>A NP_001354631.1:p.Ala694Thr missense NM_001367703.1:c.2461G>A NP_001354632.1:p.Ala821Thr missense NM_001367704.1:c.2080G>A NP_001354633.1:p.Ala694Thr missense NM_001367705.1:c.2461G>A NP_001354634.1:p.Ala821Thr missense NM_001367706.1:c.2200G>A NP_001354635.1:p.Ala734Thr missense NM_001367707.1:c.2197G>A NP_001354636.1:p.Ala733Thr missense NM_001367708.1:c.1501G>A NP_001354637.1:p.Ala501Thr missense NM_025154.6:c.1819G>A NP_079430.3:p.Ala607Thr missense NR_160281.1:n.2116G>A non-coding transcript variant NR_160282.1:n.2442G>A non-coding transcript variant NR_160283.1:n.2220G>A non-coding transcript variant NC_000007.14:g.869436G>A NC_000007.13:g.909073G>A - Protein change
- A452T, A573T, A664T, A689T, A727T, A734T, A743T, A751T, A754T, A756T, A783T, A793T, A821T, A587T, A639T, A657T, A668T, A699T, A704T, A717T, A718T, A755T, A760T, A787T, A828T, A537T, A607T, A629T, A644T, A667T, A677T, A694T, A705T, A733T, A740T, A770T, A820T, A501T, A634T, A640T, A676T, A679T, A685T, A690T, A706T, A716T, A726T, A750T, A771T, A784T, A792T
- Other names
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- Canonical SPDI
- NC_000007.14:869435: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.
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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
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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SUN1 | - | - |
GRCh38 GRCh37 |
532 | 603 |
Conditions - Germline
Condition
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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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Likely benign (1) |
criteria provided, single submitter
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Jul 28, 2021 | RCV004071501.1 |
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
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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 benign
(Jul 28, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003530356.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (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 this variant ...
HelpRecord last updated May 19, 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.