ClinVar Genomic variation as it relates to human health
NM_001077207.4(SEC31A):c.511A>G (p.Ile171Val)
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.511A>G (p.Ile171Val)
Variation ID: 2637516 Accession: VCV002637516.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q21.22 4: 82874739 (GRCh38) [ NCBI UCSC ] 4: 83795892 (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 Nov 20, 2023 Nov 20, 2023 Oct 27, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001077207.4:c.511A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001070675.1:p.Ile171Val missense NM_001077206.4:c.511A>G NP_001070674.1:p.Ile171Val missense NM_001077208.4:c.511A>G NP_001070676.1:p.Ile171Val missense NM_001191049.2:c.496A>G NP_001177978.1:p.Ile166Val missense NM_001300744.3:c.511A>G NP_001287673.1:p.Ile171Val missense NM_001300745.3:c.511A>G NP_001287674.1:p.Ile171Val missense NM_001318119.2:c.511A>G NP_001305048.1:p.Ile171Val missense NM_001318120.2:c.511A>G NP_001305049.1:p.Ile171Val missense NM_001400154.1:c.511A>G NP_001387083.1:p.Ile171Val missense NM_001400155.1:c.511A>G NP_001387084.1:p.Ile171Val missense NM_001400156.1:c.511A>G NP_001387085.1:p.Ile171Val missense NM_001400157.1:c.511A>G NP_001387086.1:p.Ile171Val missense NM_001400158.1:c.511A>G NP_001387087.1:p.Ile171Val missense NM_001400159.1:c.511A>G NP_001387088.1:p.Ile171Val missense NM_001400160.1:c.511A>G NP_001387089.1:p.Ile171Val missense NM_001400161.1:c.511A>G NP_001387090.1:p.Ile171Val missense NM_001400162.1:c.511A>G NP_001387091.1:p.Ile171Val missense NM_001400164.1:c.511A>G NP_001387093.1:p.Ile171Val missense NM_001400165.1:c.511A>G NP_001387094.1:p.Ile171Val missense NM_001400166.1:c.511A>G NP_001387095.1:p.Ile171Val missense NM_001400167.1:c.511A>G NP_001387096.1:p.Ile171Val missense NM_001400168.1:c.511A>G NP_001387097.1:p.Ile171Val missense NM_001400180.1:c.511A>G NP_001387109.1:p.Ile171Val missense NM_001400184.1:c.511A>G NP_001387113.1:p.Ile171Val missense NM_001400186.1:c.511A>G NP_001387115.1:p.Ile171Val missense NM_001400188.1:c.511A>G NP_001387117.1:p.Ile171Val missense NM_001400190.1:c.511A>G NP_001387119.1:p.Ile171Val missense NM_001400191.1:c.511A>G NP_001387120.1:p.Ile171Val missense NM_001400193.1:c.511A>G NP_001387122.1:p.Ile171Val missense NM_001400194.1:c.511A>G NP_001387123.1:p.Ile171Val missense NM_001400197.1:c.511A>G NP_001387126.1:p.Ile171Val missense NM_001400198.1:c.511A>G NP_001387127.1:p.Ile171Val missense NM_001400200.1:c.511A>G NP_001387129.1:p.Ile171Val missense NM_001400202.1:c.511A>G NP_001387131.1:p.Ile171Val missense NM_001400203.1:c.511A>G NP_001387132.1:p.Ile171Val missense NM_001400204.1:c.511A>G NP_001387133.1:p.Ile171Val missense NM_001400205.1:c.511A>G NP_001387134.1:p.Ile171Val missense NM_001400206.1:c.511A>G NP_001387135.1:p.Ile171Val missense NM_001400207.1:c.511A>G NP_001387136.1:p.Ile171Val missense NM_001400208.1:c.511A>G NP_001387137.1:p.Ile171Val missense NM_001400209.1:c.511A>G NP_001387138.1:p.Ile171Val missense NM_001400210.1:c.511A>G NP_001387139.1:p.Ile171Val missense NM_001400211.1:c.511A>G NP_001387140.1:p.Ile171Val missense NM_001400212.1:c.496A>G NP_001387141.1:p.Ile166Val missense NM_001400213.1:c.511A>G NP_001387142.1:p.Ile171Val missense NM_001400214.1:c.496A>G NP_001387143.1:p.Ile166Val missense NM_001400215.1:c.349A>G NP_001387144.1:p.Ile117Val missense NM_001400216.1:c.511A>G NP_001387145.1:p.Ile171Val missense NM_001400217.1:c.511A>G NP_001387146.1:p.Ile171Val missense NM_001400218.1:c.511A>G NP_001387147.1:p.Ile171Val missense NM_001400219.1:c.511A>G NP_001387148.1:p.Ile171Val missense NM_001400220.1:c.511A>G NP_001387149.1:p.Ile171Val missense NM_001400221.1:c.511A>G NP_001387150.1:p.Ile171Val missense NM_001400222.1:c.511A>G NP_001387151.1:p.Ile171Val missense NM_001400223.1:c.511A>G NP_001387152.1:p.Ile171Val missense NM_001400224.1:c.37A>G NP_001387153.1:p.Ile13Val missense NM_016211.5:c.511A>G NP_057295.2:p.Ile171Val missense NC_000004.12:g.82874739T>C NC_000004.11:g.83795892T>C NG_029569.3:g.30833A>G - Protein change
- I117V, I13V, I166V, I171V
- Other names
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- Canonical SPDI
- NC_000004.12:82874738: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
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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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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
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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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Oct 27, 2023 | RCV003404814.1 |
Submissions - Germline
Classification
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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
(Oct 27, 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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004122250.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
Variant summary: SEC31A c.511A>G (p.Ile171Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: SEC31A c.511A>G (p.Ile171Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.5e-05 in 241892 control chromosomes (gnomAD). To our knowledge, no occurrence of c.511A>G in individuals affected with Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. (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 Nov 25, 2023
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.