ClinVar Genomic variation as it relates to human health
NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter)
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_001083962.2(TCF4):c.680G>A (p.Trp227Ter)
Variation ID: 520978 Accession: VCV000520978.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q21.2 18: 55275728 (GRCh38) [ NCBI UCSC ] 18: 52942959 (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 Apr 15, 2018 Jan 7, 2023 Feb 23, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001083962.2:c.680G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001077431.1:p.Trp227Ter nonsense NM_001243226.3:c.986G>A NP_001230155.2:p.Trp329Ter nonsense NM_001243227.2:c.608G>A NP_001230156.1:p.Trp203Ter nonsense NM_001243228.2:c.698G>A NP_001230157.1:p.Trp233Ter nonsense NM_001243230.2:c.674G>A NP_001230159.1:p.Trp225Ter nonsense NM_001243231.2:c.554G>A NP_001230160.1:p.Trp185Ter nonsense NM_001243232.1:c.467G>A NP_001230161.1:p.Trp156Ter nonsense NM_001243233.2:c.290G>A NP_001230162.1:p.Trp97Ter nonsense NM_001243234.2:c.200G>A NP_001230163.1:p.Trp67Ter nonsense NM_001243235.2:c.200G>A NP_001230164.1:p.Trp67Ter nonsense NM_001243236.2:c.200G>A NP_001230165.1:p.Trp67Ter nonsense NM_001306207.1:c.608G>A NP_001293136.1:p.Trp203Ter nonsense NM_001306208.1:c.467G>A NP_001293137.1:p.Trp156Ter nonsense NM_001330604.3:c.680G>A NP_001317533.1:p.Trp227Ter nonsense NM_001330605.3:c.290G>A NP_001317534.1:p.Trp97Ter nonsense NM_001348211.2:c.554G>A NP_001335140.1:p.Trp185Ter nonsense NM_001348212.2:c.290G>A NP_001335141.1:p.Trp97Ter nonsense NM_001348213.2:c.290G>A NP_001335142.1:p.Trp97Ter nonsense NM_001348214.2:c.200G>A NP_001335143.1:p.Trp67Ter nonsense NM_001348215.2:c.32G>A NP_001335144.1:p.Trp11Ter nonsense NM_001348216.2:c.200G>A NP_001335145.1:p.Trp67Ter nonsense NM_001348217.1:c.608G>A NP_001335146.1:p.Trp203Ter nonsense NM_001348218.2:c.608G>A NP_001335147.1:p.Trp203Ter nonsense NM_001348219.2:c.608G>A NP_001335148.1:p.Trp203Ter nonsense NM_001348220.1:c.605G>A NP_001335149.1:p.Trp202Ter nonsense NM_001369567.1:c.680G>A NP_001356496.1:p.Trp227Ter nonsense NM_001369568.1:c.680G>A NP_001356497.1:p.Trp227Ter nonsense NM_001369569.1:c.677G>A NP_001356498.1:p.Trp226Ter nonsense NM_001369570.1:c.677G>A NP_001356499.1:p.Trp226Ter nonsense NM_001369571.1:c.680G>A NP_001356500.1:p.Trp227Ter nonsense NM_001369572.1:c.680G>A NP_001356501.1:p.Trp227Ter nonsense NM_001369573.1:c.677G>A NP_001356502.1:p.Trp226Ter nonsense NM_001369574.1:c.680G>A NP_001356503.1:p.Trp227Ter nonsense NM_001369575.1:c.608G>A NP_001356504.1:p.Trp203Ter nonsense NM_001369576.1:c.605G>A NP_001356505.1:p.Trp202Ter nonsense NM_001369577.1:c.608G>A NP_001356506.1:p.Trp203Ter nonsense NM_001369578.1:c.605G>A NP_001356507.1:p.Trp202Ter nonsense NM_001369579.1:c.608G>A NP_001356508.1:p.Trp203Ter nonsense NM_001369580.1:c.608G>A NP_001356509.1:p.Trp203Ter nonsense NM_001369581.1:c.605G>A NP_001356510.1:p.Trp202Ter nonsense NM_001369582.1:c.608G>A NP_001356511.1:p.Trp203Ter nonsense NM_001369583.1:c.608G>A NP_001356512.1:p.Trp203Ter nonsense NM_001369584.1:c.605G>A NP_001356513.1:p.Trp202Ter nonsense NM_001369585.1:c.605G>A NP_001356514.1:p.Trp202Ter nonsense NM_001369586.1:c.608G>A NP_001356515.1:p.Trp203Ter nonsense NM_003199.3:c.680G>A NP_003190.1:p.Trp227Ter nonsense NC_000018.10:g.55275728C>T NC_000018.9:g.52942959C>T NG_011716.2:g.365266G>A - Protein change
- W227*, W329*, W67*, W11*, W156*, W185*, W202*, W225*, W97*, W203*, W226*, W233*
- Other names
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- Canonical SPDI
- NC_000018.10:55275727:C:T
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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
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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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| TCF4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
993 | 1220 | |
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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| Pathogenic (1) |
criteria provided, single submitter
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Feb 23, 2016 | RCV000623798.2 |
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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Pathogenic
(Feb 23, 2016)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: yes
Allele origin:
germline
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Ambry Genetics
Accession: SCV000741353.3
First in ClinVar: Apr 15, 2018 Last updated: Jan 07, 2023 |
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Delayed myelination (present) , Hypoplasia of the corpus callosum (present) , Facial asymmetry (present) , Esotropia (present) , Torticollis (present) … (more)
Global developmental delay (present) , Delayed myelination (present) , Hypoplasia of the corpus callosum (present) , Facial asymmetry (present) , Esotropia (present) , Torticollis (present) , Scoliosis (present) , Narrow palpebral fissure (present) , Redundant neck skin (present) , Abnormality of oral frenula (present) , Polyhydramnios (present) (less)
Sex: female
Ethnicity/Population group: Caucasian
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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
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 rs1555797231 ...
HelpRecord last updated Jan 07, 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.