ClinVar Genomic variation as it relates to human health
NM_001375670.1(ABI2):c.421A>G (p.Ile141Val)
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.
Uncertain significance(1); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001375670.1(ABI2):c.421A>G (p.Ile141Val)
Variation ID: 3045954 Accession: VCV003045954.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q33.2 2: 203380343 (GRCh38) [ NCBI UCSC ] 2: 204245066 (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 Mar 17, 2024 May 1, 2024 Aug 29, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001375670.1:c.421A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001362599.1:p.Ile141Val missense NM_001282925.3:c.421A>G NP_001269854.1:p.Ile141Val missense NM_001282926.3:c.421A>G NP_001269855.1:p.Ile141Val missense NM_001282927.2:c.286A>G NP_001269856.1:p.Ile96Val missense NM_001282932.2:c.253A>G NP_001269861.1:p.Ile85Val missense NM_001375662.1:c.199A>G NP_001362591.1:p.Ile67Val missense NM_001375663.1:c.199A>G NP_001362592.1:p.Ile67Val missense NM_001375664.1:c.199A>G NP_001362593.1:p.Ile67Val missense NM_001375665.1:c.199A>G NP_001362594.1:p.Ile67Val missense NM_001375666.1:c.199A>G NP_001362595.1:p.Ile67Val missense NM_001375667.1:c.199A>G NP_001362596.1:p.Ile67Val missense NM_001375668.1:c.199A>G NP_001362597.1:p.Ile67Val missense NM_001375669.1:c.199A>G NP_001362598.1:p.Ile67Val missense NM_001375671.1:c.421A>G NP_001362600.1:p.Ile141Val missense NM_001375672.1:c.421A>G NP_001362601.1:p.Ile141Val missense NM_001375673.1:c.421A>G NP_001362602.1:p.Ile141Val missense NM_001375674.1:c.421A>G NP_001362603.1:p.Ile141Val missense NM_001375675.1:c.421A>G NP_001362604.1:p.Ile141Val missense NM_001375676.1:c.421A>G NP_001362605.1:p.Ile141Val missense NM_001375677.1:c.421A>G NP_001362606.1:p.Ile141Val missense NM_001375678.1:c.421A>G NP_001362607.1:p.Ile141Val missense NM_001375679.1:c.286A>G NP_001362608.1:p.Ile96Val missense NM_001375680.1:c.421A>G NP_001362609.1:p.Ile141Val missense NM_001375681.1:c.421A>G NP_001362610.1:p.Ile141Val missense NM_001375682.1:c.421A>G NP_001362611.1:p.Ile141Val missense NM_001375683.1:c.421A>G NP_001362612.1:p.Ile141Val missense NM_001375684.1:c.421A>G NP_001362613.1:p.Ile141Val missense NM_001375685.1:c.421A>G NP_001362614.1:p.Ile141Val missense NM_001375686.1:c.421A>G NP_001362615.1:p.Ile141Val missense NM_001375687.1:c.421A>G NP_001362616.1:p.Ile141Val missense NM_001375688.1:c.421A>G NP_001362617.1:p.Ile141Val missense NM_001375689.1:c.421A>G NP_001362618.1:p.Ile141Val missense NM_001375690.1:c.421A>G NP_001362619.1:p.Ile141Val missense NM_001375691.1:c.286A>G NP_001362620.1:p.Ile96Val missense NM_001375692.1:c.421A>G NP_001362621.1:p.Ile141Val missense NM_001375693.1:c.421A>G NP_001362622.1:p.Ile141Val missense NM_001375695.1:c.199A>G NP_001362624.1:p.Ile67Val missense NM_001375696.1:c.421A>G NP_001362625.1:p.Ile141Val missense NM_001375698.1:c.421A>G NP_001362627.1:p.Ile141Val missense NM_001375699.1:c.421A>G NP_001362628.1:p.Ile141Val missense NM_001375702.1:c.253A>G NP_001362631.1:p.Ile85Val missense NM_001375704.1:c.421A>G NP_001362633.1:p.Ile141Val missense NM_001375706.1:c.421A>G NP_001362635.1:p.Ile141Val missense NM_001375707.1:c.421A>G NP_001362636.1:p.Ile141Val missense NM_001375708.1:c.421A>G NP_001362637.1:p.Ile141Val missense NM_001375709.1:c.421A>G NP_001362638.1:p.Ile141Val missense NM_001375710.1:c.421A>G NP_001362639.1:p.Ile141Val missense NM_001375711.1:c.199A>G NP_001362640.1:p.Ile67Val missense NM_001375712.1:c.421A>G NP_001362641.1:p.Ile141Val missense NM_001375714.1:c.253A>G NP_001362643.1:p.Ile85Val missense NM_001375717.1:c.286A>G NP_001362646.1:p.Ile96Val missense NM_001375719.1:c.331A>G NP_001362648.1:p.Ile111Val missense NM_001375721.1:c.286A>G NP_001362650.1:p.Ile96Val missense NM_001375722.1:c.286A>G NP_001362651.1:p.Ile96Val missense NM_001375723.1:c.421A>G NP_001362652.1:p.Ile141Val missense NM_001375724.1:c.421A>G NP_001362653.1:p.Ile141Val missense NM_001375725.1:c.421A>G NP_001362654.1:p.Ile141Val missense NM_001375726.1:c.421A>G NP_001362655.1:p.Ile141Val missense NM_001375727.1:c.199A>G NP_001362656.1:p.Ile67Val missense NM_001375728.1:c.253A>G NP_001362657.1:p.Ile85Val missense NM_001375729.1:c.199A>G NP_001362658.1:p.Ile67Val missense NM_001375730.1:c.253A>G NP_001362659.1:p.Ile85Val missense NM_001375731.1:c.253A>G NP_001362660.1:p.Ile85Val missense NM_001375732.1:c.253A>G NP_001362661.1:p.Ile85Val missense NM_001375733.1:c.253A>G NP_001362662.1:p.Ile85Val missense NM_001375734.1:c.199A>G NP_001362663.1:p.Ile67Val missense NM_001375735.1:c.199A>G NP_001362664.1:p.Ile67Val missense NM_001375736.1:c.286-10703A>G intron variant NM_001375737.1:c.421A>G NP_001362666.1:p.Ile141Val missense NM_001375738.1:c.421A>G NP_001362667.1:p.Ile141Val missense NM_001375739.1:c.421A>G NP_001362668.1:p.Ile141Val missense NM_001375740.1:c.421A>G NP_001362669.1:p.Ile141Val missense NM_001375741.1:c.253A>G NP_001362670.1:p.Ile85Val missense NM_001375742.1:c.199A>G NP_001362671.1:p.Ile67Val missense NM_001375743.1:c.253A>G NP_001362672.1:p.Ile85Val missense NM_001375744.1:c.286-10703A>G intron variant NM_001375745.1:c.199A>G NP_001362674.1:p.Ile67Val missense NM_001375746.1:c.286-10703A>G intron variant NM_001375747.1:c.286A>G NP_001362676.1:p.Ile96Val missense NM_001375748.1:c.199A>G NP_001362677.1:p.Ile67Val missense NM_001375749.1:c.286-10703A>G intron variant NM_001375750.1:c.199A>G NP_001362679.1:p.Ile67Val missense NM_001375751.1:c.199A>G NP_001362680.1:p.Ile67Val missense NM_001375752.1:c.253A>G NP_001362681.1:p.Ile85Val missense NM_001375753.1:c.199A>G NP_001362682.1:p.Ile67Val missense NM_001375754.1:c.286A>G NP_001362683.1:p.Ile96Val missense NM_001375755.1:c.421A>G NP_001362684.1:p.Ile141Val missense NM_005759.4:c.421A>G NM_005759.7:c.421A>G NP_005750.4:p.Ile141Val missense NR_164705.1:n.628A>G non-coding transcript variant NR_164706.1:n.542A>G non-coding transcript variant NR_164707.1:n.542A>G non-coding transcript variant NR_164708.1:n.542A>G non-coding transcript variant NR_164709.1:n.542A>G non-coding transcript variant NR_164710.1:n.374A>G non-coding transcript variant NR_164711.1:n.542A>G non-coding transcript variant NR_164712.1:n.542A>G non-coding transcript variant NR_164713.1:n.628A>G non-coding transcript variant NR_164715.1:n.628A>G non-coding transcript variant NR_164716.1:n.538A>G non-coding transcript variant NR_164717.1:n.538A>G non-coding transcript variant NC_000002.12:g.203380343A>G NC_000002.11:g.204245066A>G - Protein change
- I111V, I141V, I67V, I85V, I96V
- Other names
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- Canonical SPDI
- NC_000002.12:203380342: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
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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
Help
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
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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ABI2 | - | - |
GRCh38 GRCh37 |
13 | 43 |
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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Uncertain significance (1) |
criteria provided, single submitter
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Aug 12, 2021 | RCV004369820.1 | |
Likely benign (1) |
criteria provided, single submitter
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Aug 29, 2022 | RCV003951628.1 |
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
(Aug 29, 2022)
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criteria provided, single submitter
Method: clinical testing
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ABI2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004762422.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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Uncertain significance
(Aug 12, 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: SCV004909978.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.421A>G (p.I141V) alteration is located in exon 3 (coding exon 3) of the ABI2 gene. This alteration results from a A to G substitution … (more)
The c.421A>G (p.I141V) alteration is located in exon 3 (coding exon 3) of the ABI2 gene. This alteration results from a A to G substitution at nucleotide position 421, causing the isoleucine (I) at amino acid position 141 to be replaced by a valine (V). 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 May 01, 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.