ClinVar Genomic variation as it relates to human health
NM_001077207.4(SEC31A):c.1844A>G (p.Lys615Arg)
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_001077207.4(SEC31A):c.1844A>G (p.Lys615Arg)
Variation ID: 2527422 Accession: VCV002527422.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q21.22 4: 82856989 (GRCh38) [ NCBI UCSC ] 4: 83778142 (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 Jul 8, 2023 May 1, 2024 Mar 21, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001077207.4:c.1844A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001070675.1:p.Lys615Arg missense NM_001077206.4:c.1844A>G NP_001070674.1:p.Lys615Arg missense NM_001077208.4:c.1844A>G NP_001070676.1:p.Lys615Arg missense NM_001191049.2:c.1829A>G NP_001177978.1:p.Lys610Arg missense NM_001300744.3:c.1727A>G NP_001287673.1:p.Lys576Arg missense NM_001300745.3:c.1727A>G NP_001287674.1:p.Lys576Arg missense NM_001318119.2:c.1844A>G NP_001305048.1:p.Lys615Arg missense NM_001318120.2:c.1844A>G NP_001305049.1:p.Lys615Arg missense NM_001400154.1:c.1844A>G NP_001387083.1:p.Lys615Arg missense NM_001400155.1:c.1844A>G NP_001387084.1:p.Lys615Arg missense NM_001400156.1:c.1844A>G NP_001387085.1:p.Lys615Arg missense NM_001400157.1:c.1844A>G NP_001387086.1:p.Lys615Arg missense NM_001400158.1:c.1844A>G NP_001387087.1:p.Lys615Arg missense NM_001400159.1:c.1844A>G NP_001387088.1:p.Lys615Arg missense NM_001400160.1:c.1766A>G NP_001387089.1:p.Lys589Arg missense NM_001400161.1:c.1727A>G NP_001387090.1:p.Lys576Arg missense NM_001400162.1:c.1805A>G NP_001387091.1:p.Lys602Arg missense NM_001400164.1:c.1844A>G NP_001387093.1:p.Lys615Arg missense NM_001400165.1:c.1805A>G NP_001387094.1:p.Lys602Arg missense NM_001400166.1:c.1844A>G NP_001387095.1:p.Lys615Arg missense NM_001400167.1:c.1727A>G NP_001387096.1:p.Lys576Arg missense NM_001400168.1:c.1727A>G NP_001387097.1:p.Lys576Arg missense NM_001400180.1:c.1766A>G NP_001387109.1:p.Lys589Arg missense NM_001400184.1:c.1805A>G NP_001387113.1:p.Lys602Arg missense NM_001400186.1:c.1805A>G NP_001387115.1:p.Lys602Arg missense NM_001400188.1:c.1766A>G NP_001387117.1:p.Lys589Arg missense NM_001400190.1:c.1844A>G NP_001387119.1:p.Lys615Arg missense NM_001400191.1:c.1844A>G NP_001387120.1:p.Lys615Arg missense NM_001400193.1:c.1844A>G NP_001387122.1:p.Lys615Arg missense NM_001400194.1:c.1844A>G NP_001387123.1:p.Lys615Arg missense NM_001400197.1:c.1766A>G NP_001387126.1:p.Lys589Arg missense NM_001400198.1:c.1727A>G NP_001387127.1:p.Lys576Arg missense NM_001400200.1:c.1766A>G NP_001387129.1:p.Lys589Arg missense NM_001400202.1:c.1727A>G NP_001387131.1:p.Lys576Arg missense NM_001400203.1:c.1766A>G NP_001387132.1:p.Lys589Arg missense NM_001400204.1:c.1805A>G NP_001387133.1:p.Lys602Arg missense NM_001400205.1:c.1805A>G NP_001387134.1:p.Lys602Arg missense NM_001400206.1:c.1805A>G NP_001387135.1:p.Lys602Arg missense NM_001400207.1:c.1727A>G NP_001387136.1:p.Lys576Arg missense NM_001400208.1:c.1844A>G NP_001387137.1:p.Lys615Arg missense NM_001400209.1:c.1727A>G NP_001387138.1:p.Lys576Arg missense NM_001400210.1:c.1766A>G NP_001387139.1:p.Lys589Arg missense NM_001400211.1:c.1766A>G NP_001387140.1:p.Lys589Arg missense NM_001400212.1:c.1829A>G NP_001387141.1:p.Lys610Arg missense NM_001400213.1:c.1727A>G NP_001387142.1:p.Lys576Arg missense NM_001400214.1:c.1829A>G NP_001387143.1:p.Lys610Arg missense NM_001400215.1:c.1565A>G NP_001387144.1:p.Lys522Arg missense NM_001400216.1:c.1805A>G NP_001387145.1:p.Lys602Arg missense NM_001400217.1:c.1844A>G NP_001387146.1:p.Lys615Arg missense NM_001400218.1:c.1727A>G NP_001387147.1:p.Lys576Arg missense NM_001400219.1:c.1844A>G NP_001387148.1:p.Lys615Arg missense NM_001400220.1:c.1844A>G NP_001387149.1:p.Lys615Arg missense NM_001400221.1:c.1766A>G NP_001387150.1:p.Lys589Arg missense NM_001400222.1:c.1766A>G NP_001387151.1:p.Lys589Arg missense NM_001400223.1:c.1727A>G NP_001387152.1:p.Lys576Arg missense NM_001400224.1:c.1370A>G NP_001387153.1:p.Lys457Arg missense NM_016211.5:c.1727A>G NP_057295.2:p.Lys576Arg missense NC_000004.12:g.82856989T>C NC_000004.11:g.83778142T>C NG_029569.3:g.48583A>G - Protein change
- K522R, K576R, K602R, K589R, K610R, K457R, K615R
- Other names
- NM_014933.3:c.1844A>G
- Canonical SPDI
- NC_000004.12:82856988:T:C
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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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SEC31A | - | - |
GRCh38 GRCh37 |
85 | 124 |
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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Uncertain significance (1) |
criteria provided, single submitter
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Mar 21, 2023 | RCV004298757.1 |
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
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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 21, 2023)
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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: SCV003966174.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.1844A>G (p.K615R) alteration is located in exon 16 (coding exon 15) of the SEC31A gene. This alteration results from a A to G substitution … (more)
The c.1844A>G (p.K615R) alteration is located in exon 16 (coding exon 15) of the SEC31A gene. This alteration results from a A to G substitution at nucleotide position 1844, causing the lysine (K) at amino acid position 615 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (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 Jul 29, 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.