This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ClinVar Genomic variation as it relates to human health
NM_001376342.1(ZC3H11A):c.745G>A (p.Val249Ile)
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.
Likely benign
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_001376342.1(ZC3H11A):c.745G>A (p.Val249Ile)
Variation ID: 3192255 Accession: VCV003192255.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q32.1 1: 203831705 (GRCh38) [ NCBI UCSC ] 1: 203800833 (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 May 1, 2024 May 1, 2024 Nov 2, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001376342.1:c.745G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363271.1:p.Val249Ile missense NM_001395895.1:c.*3444G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
3 prime UTR NM_001319238.2:c.745G>A NP_001306167.1:p.Val249Ile missense NM_001319239.2:c.745G>A NP_001306168.1:p.Val249Ile missense NM_001350261.2:c.745G>A NP_001337190.1:p.Val249Ile missense NM_001350262.2:c.745G>A NP_001337191.1:p.Val249Ile missense NM_001350263.2:c.745G>A NP_001337192.1:p.Val249Ile missense NM_001350264.2:c.745G>A NP_001337193.1:p.Val249Ile missense NM_001350265.2:c.745G>A NP_001337194.1:p.Val249Ile missense NM_001350266.2:c.745G>A NP_001337195.1:p.Val249Ile missense NM_001376334.1:c.745G>A NP_001363263.1:p.Val249Ile missense NM_001376335.1:c.745G>A NP_001363264.1:p.Val249Ile missense NM_001376336.1:c.745G>A NP_001363265.1:p.Val249Ile missense NM_001376337.1:c.745G>A NP_001363266.1:p.Val249Ile missense NM_001376338.1:c.745G>A NP_001363267.1:p.Val249Ile missense NM_001376339.1:c.745G>A NP_001363268.1:p.Val249Ile missense NM_001376340.1:c.745G>A NP_001363269.1:p.Val249Ile missense NM_001376341.1:c.745G>A NP_001363270.1:p.Val249Ile missense NM_001376343.1:c.745G>A NP_001363272.1:p.Val249Ile missense NM_001376344.1:c.745G>A NP_001363273.1:p.Val249Ile missense NM_001376345.1:c.745G>A NP_001363274.1:p.Val249Ile missense NM_001376346.1:c.745G>A NP_001363275.1:p.Val249Ile missense NM_001376347.1:c.745G>A NP_001363276.1:p.Val249Ile missense NM_001376348.1:c.745G>A NP_001363277.1:p.Val249Ile missense NM_001376349.1:c.745G>A NP_001363278.1:p.Val249Ile missense NM_001376350.1:c.745G>A NP_001363279.1:p.Val249Ile missense NM_001376351.1:c.745G>A NP_001363280.1:p.Val249Ile missense NM_001376352.1:c.745G>A NP_001363281.1:p.Val249Ile missense NM_001376353.1:c.745G>A NP_001363282.1:p.Val249Ile missense NM_001376354.1:c.745G>A NP_001363283.1:p.Val249Ile missense NM_001376355.1:c.745G>A NP_001363284.1:p.Val249Ile missense NM_001376356.1:c.745G>A NP_001363285.1:p.Val249Ile missense NM_001376357.1:c.745G>A NP_001363286.1:p.Val249Ile missense NM_001376358.1:c.745G>A NP_001363287.1:p.Val249Ile missense NM_001376359.1:c.745G>A NP_001363288.1:p.Val249Ile missense NM_001376360.1:c.745G>A NP_001363289.1:p.Val249Ile missense NM_001376361.1:c.745G>A NP_001363290.1:p.Val249Ile missense NM_001376362.1:c.745G>A NP_001363291.1:p.Val249Ile missense NM_001376363.1:c.745G>A NP_001363292.1:p.Val249Ile missense NM_001376364.1:c.745G>A NP_001363293.1:p.Val249Ile missense NM_001376365.1:c.745G>A NP_001363294.1:p.Val249Ile missense NM_001376366.1:c.745G>A NP_001363295.1:p.Val249Ile missense NM_001376367.1:c.745G>A NP_001363296.1:p.Val249Ile missense NM_014827.6:c.745G>A NP_055642.3:p.Val249Ile missense NC_000001.11:g.203831705G>A NC_000001.10:g.203800833G>A - Protein change
- V249I
- Other names
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- Canonical SPDI
- NC_000001.11:203831704:G: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
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. |
|||
| ZBED6 | - | - |
GRCh38 GRCh37 |
- | 115 | |
| ZC3H11A | - | - |
GRCh38 GRCh37 |
- | 115 | |
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. |
|---|---|---|---|---|
| Likely benign (1) |
criteria provided, single submitter
|
Nov 2, 2023 | RCV004481193.1 |
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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|---|---|---|---|---|---|
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Likely benign
(Nov 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV004981471.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (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:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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 Sep 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.