The c.723A>G (p.I241M) alteration is located in exon 10 (coding exon 9) of the ATG13 gene. This alteration results from a A to G substitution at nucleotide position 723, causing the isoleucine (I) at amino acid position 241 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001346311.2(ATG13):c.723A>G (p.Ile241Met)
Germline
Classification
Help
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.
(1)
Help
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001346311.2(ATG13):c.723A>G (p.Ile241Met)
Variation ID: 3320758 Accession: VCV003320758.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 46659419 (GRCh38) [ NCBI UCSC ] 11: 46680969 (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 Aug 11, 2024 Aug 11, 2024 Apr 22, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001346311.2:c.723A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001333240.1:p.Ile241Met missense NM_001142673.3:c.723A>G NP_001136145.1:p.Ile241Met missense NM_001205119.2:c.723A>G NP_001192048.1:p.Ile241Met missense NM_001205120.2:c.723A>G NP_001192049.1:p.Ile241Met missense NM_001205121.2:c.723A>G NP_001192050.1:p.Ile241Met missense NM_001205122.2:c.486A>G NP_001192051.1:p.Ile162Met missense NM_001346312.2:c.723A>G NP_001333241.1:p.Ile241Met missense NM_001346313.2:c.723A>G NP_001333242.1:p.Ile241Met missense NM_001346314.2:c.723A>G NP_001333243.1:p.Ile241Met missense NM_001346315.2:c.723A>G NP_001333244.1:p.Ile241Met missense NM_001346316.2:c.723A>G NP_001333245.1:p.Ile241Met missense NM_001346317.2:c.723A>G NP_001333246.1:p.Ile241Met missense NM_001346318.2:c.723A>G NP_001333247.1:p.Ile241Met missense NM_001346319.2:c.723A>G NP_001333248.1:p.Ile241Met missense NM_001346320.2:c.723A>G NP_001333249.1:p.Ile241Met missense NM_001346321.2:c.723A>G NP_001333250.1:p.Ile241Met missense NM_001346322.2:c.723A>G NP_001333251.1:p.Ile241Met missense NM_001346323.2:c.723A>G NP_001333252.1:p.Ile241Met missense NM_001346324.2:c.723A>G NP_001333253.1:p.Ile241Met missense NM_001346325.2:c.723A>G NP_001333254.1:p.Ile241Met missense NM_001346326.2:c.723A>G NP_001333255.1:p.Ile241Met missense NM_001346327.2:c.723A>G NP_001333256.1:p.Ile241Met missense NM_001346328.2:c.723A>G NP_001333257.1:p.Ile241Met missense NM_001346329.2:c.723A>G NP_001333258.1:p.Ile241Met missense NM_001346330.2:c.723A>G NP_001333259.1:p.Ile241Met missense NM_001346331.2:c.723A>G NP_001333260.1:p.Ile241Met missense NM_001346332.2:c.723A>G NP_001333261.1:p.Ile241Met missense NM_001346333.2:c.723A>G NP_001333262.1:p.Ile241Met missense NM_001346334.2:c.723A>G NP_001333263.1:p.Ile241Met missense NM_001346335.2:c.723A>G NP_001333264.1:p.Ile241Met missense NM_001346336.2:c.723A>G NP_001333265.1:p.Ile241Met missense NM_001346337.2:c.723A>G NP_001333266.1:p.Ile241Met missense NM_001346338.2:c.723A>G NP_001333267.1:p.Ile241Met missense NM_001346340.2:c.723A>G NP_001333269.1:p.Ile241Met missense NM_001346342.2:c.723A>G NP_001333271.1:p.Ile241Met missense NM_001346344.2:c.723A>G NP_001333273.1:p.Ile241Met missense NM_001346346.2:c.723A>G NP_001333275.1:p.Ile241Met missense NM_001346348.2:c.723A>G NP_001333277.1:p.Ile241Met missense NM_001346349.2:c.723A>G NP_001333278.1:p.Ile241Met missense NM_001346350.2:c.723A>G NP_001333279.1:p.Ile241Met missense NM_001346351.2:c.723A>G NP_001333280.1:p.Ile241Met missense NM_001346352.2:c.723A>G NP_001333281.1:p.Ile241Met missense NM_001346353.2:c.723A>G NP_001333282.1:p.Ile241Met missense NM_001346354.2:c.723A>G NP_001333283.1:p.Ile241Met missense NM_001346355.2:c.723A>G NP_001333284.1:p.Ile241Met missense NM_001346356.2:c.723A>G NP_001333285.1:p.Ile241Met missense NM_001346357.2:c.138A>G NP_001333286.1:p.Ile46Met missense NM_001346358.2:c.138A>G NP_001333287.1:p.Ile46Met missense NM_001346359.2:c.138A>G NP_001333288.1:p.Ile46Met missense NM_001346360.2:c.138A>G NP_001333289.1:p.Ile46Met missense NM_014741.5:c.723A>G NP_055556.2:p.Ile241Met missense NR_144422.2:n.1130A>G non-coding transcript variant NR_144423.2:n.1130A>G non-coding transcript variant NR_144424.2:n.1130A>G non-coding transcript variant NC_000011.10:g.46659419A>G NC_000011.9:g.46680969A>G NG_051811.1:g.47144A>G NG_051811.2:g.46868A>G - Protein change
- I46M, I162M, I241M
- Other names
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- Canonical SPDI
- NC_000011.10:46659418: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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Allele frequency
Help
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
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| 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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| ATG13 | - | - |
GRCh38 GRCh37 |
37 | 61 | |
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Apr 22, 2024 | RCV004667708.1 |
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
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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Uncertain significance
(Apr 22, 2024)
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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: SCV005169174.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.723A>G (p.I241M) alteration is located in exon 10 (coding exon 9) of the ATG13 gene. This alteration results from a A to G substitution … (more)
The c.723A>G (p.I241M) alteration is located in exon 10 (coding exon 9) of the ATG13 gene. This alteration results from a A to G substitution at nucleotide position 723, causing the isoleucine (I) at amino acid position 241 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
Comment:
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. |
Comment:
The c.723A>G (p.I241M) alteration is located in exon 10 (coding exon 9) of the ATG13 gene. This alteration results from a A to G substitution at nucleotide position 723, causing the isoleucine (I) at amino acid position 241 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There 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 Aug 11, 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.