ClinVar Genomic variation as it relates to human health
NM_001367534.1(CAMK2G):c.1381A>T (p.Ile461Phe)
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_001367534.1(CAMK2G):c.1381A>T (p.Ile461Phe)
Variation ID: 2640593 Accession: VCV002640593.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q22.2 10: 73817537 (GRCh38) [ NCBI UCSC ] 10: 75577295 (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 Apr 15, 2024 Oct 1, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001367534.1:c.1381A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001354463.1:p.Ile461Phe missense NM_001204492.2:c.1234A>T NP_001191421.1:p.Ile412Phe missense NM_001222.4:c.1102A>T NP_001213.2:p.Ile368Phe missense NM_001320898.2:c.1312A>T NP_001307827.1:p.Ile438Phe missense NM_001367514.1:c.1261A>T NP_001354443.1:p.Ile421Phe missense NM_001367516.1:c.1171A>T NP_001354445.1:p.Ile391Phe missense NM_001367517.1:c.1171A>T NP_001354446.1:p.Ile391Phe missense NM_001367518.1:c.1249A>T NP_001354447.1:p.Ile417Phe missense NM_001367519.1:c.1135A>T NP_001354448.1:p.Ile379Phe missense NM_001367520.1:c.1243A>T NP_001354449.1:p.Ile415Phe missense NM_001367521.1:c.1234A>T NP_001354450.1:p.Ile412Phe missense NM_001367522.1:c.1249A>T NP_001354451.1:p.Ile417Phe missense NM_001367523.1:c.1198A>T NP_001354452.1:p.Ile400Phe missense NM_001367524.1:c.1066A>T NP_001354453.1:p.Ile356Phe missense NM_001367525.1:c.1261A>T NP_001354454.1:p.Ile421Phe missense NM_001367526.1:c.1344A>T NP_001354455.1:p.Ser448= synonymous NM_001367527.1:c.1279A>T NP_001354456.1:p.Ile427Phe missense NM_001367528.1:c.1216A>T NP_001354457.1:p.Ile406Phe missense NM_001367529.1:c.1171A>T NP_001354458.1:p.Ile391Phe missense NM_001367530.1:c.1135A>T NP_001354459.1:p.Ile379Phe missense NM_001367531.1:c.1204A>T NP_001354460.1:p.Ile402Phe missense NM_001367532.1:c.1147A>T NP_001354461.1:p.Ile383Phe missense NM_001367533.1:c.1243A>T NP_001354462.1:p.Ile415Phe missense NM_001367535.1:c.1257A>T NP_001354464.1:p.Ser419= synonymous NM_001367536.1:c.1222A>T NP_001354465.1:p.Ile408Phe missense NM_001367537.1:c.904A>T NP_001354466.1:p.Ile302Phe missense NM_001367538.1:c.790A>T NP_001354467.1:p.Ile264Phe missense NM_001367539.1:c.1039A>T NP_001354468.1:p.Ile347Phe missense NM_001367540.1:c.436A>T NP_001354469.1:p.Ile146Phe missense NM_001367541.1:c.1102A>T NP_001354470.1:p.Ile368Phe missense NM_001367542.1:c.595A>T NP_001354471.1:p.Ile199Phe missense NM_001367543.1:c.1267A>T NP_001354472.1:p.Ile423Phe missense NM_001367544.1:c.1348A>T NP_001354473.1:p.Ile450Phe missense NM_001367545.1:c.1216A>T NP_001354474.1:p.Ile406Phe missense NM_001367546.1:c.1312A>T NP_001354475.1:p.Ile438Phe missense NM_001367547.1:c.1312A>T NP_001354476.1:p.Ile438Phe missense NM_001367548.1:c.1339A>T NP_001354477.1:p.Ile447Phe missense NM_172169.3:c.1198A>T NP_751909.1:p.Ile400Phe missense NM_172170.5:c.1171A>T NP_751910.1:p.Ile391Phe missense NM_172171.3:c.1285A>T NP_751911.1:p.Ile429Phe missense NM_172173.3:c.1129A>T NP_751913.1:p.Ile377Phe missense NR_160040.1:n.2066A>T non-coding transcript variant NR_160041.1:n.1199A>T non-coding transcript variant NR_160042.1:n.1324A>T non-coding transcript variant NR_160044.1:n.1324A>T non-coding transcript variant NR_160045.1:n.1101A>T non-coding transcript variant NR_160046.1:n.1709A>T non-coding transcript variant NR_160047.1:n.1467A>T non-coding transcript variant NR_160263.1:n.2142A>T non-coding transcript variant NC_000010.11:g.73817537T>A NC_000010.10:g.75577295T>A NG_029408.2:g.62055A>T - Protein change
- I146F, I199F, I264F, I302F, I347F, I356F, I368F, I377F, I379F, I383F, I391F, I400F, I402F, I406F, I408F, I412F, I415F, I417F, I421F, I423F, I427F, I429F, I438F, I447F, I450F, I461F
- Other names
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- Canonical SPDI
- NC_000010.11:73817536:T: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
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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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CAMK2G | - | - |
GRCh38 GRCh37 |
67 | 85 |
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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Oct 1, 2023 | RCV003417507.4 |
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
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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 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: SCV004126786.4
First in ClinVar: Nov 20, 2023 Last updated: Apr 15, 2024 |
Comment:
CAMK2G: PM2
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 this variant ...
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.