This variant, c.545_547del, results in the deletion of 1 amino acid(s) of the KRIT1 protein (p.Pro182del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs758571745, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KRIT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ClinVar Genomic variation as it relates to human health
NM_194454.3(KRIT1):c.542CTC[1] (p.Pro182del)
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)
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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_194454.3(KRIT1):c.542CTC[1] (p.Pro182del)
Variation ID: 3015837 Accession: VCV003015837.1
- Type and length
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Microsatellite, 3 bp
- Location
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Cytogenetic: 7q21.2 7: 92235585-92235587 (GRCh38) [ NCBI UCSC ] 7: 91864899-91864901 (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 Feb 29, 2024 Feb 28, 2024 Dec 7, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_194454.3:c.542CTC[1] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_919436.1:p.Pro182del inframe deletion NM_001013406.2:c.542CTC[1] NP_001013424.1:p.Pro182del inframe deletion NM_001350669.1:c.542CTC[1] NP_001337598.1:p.Pro182del inframe deletion NM_001350670.1:c.542CTC[1] NP_001337599.1:p.Pro182del inframe deletion NM_001350671.1:c.-42CTC[1] 5 prime UTR NM_001350672.1:c.542CTC[1] NP_001337601.1:p.Pro182del inframe deletion NM_001350673.1:c.542CTC[1] NP_001337602.1:p.Pro182del inframe deletion NM_001350674.1:c.542CTC[1] NP_001337603.1:p.Pro182del inframe deletion NM_001350675.1:c.542CTC[1] NP_001337604.1:p.Pro182del inframe deletion NM_001350676.1:c.542CTC[1] NP_001337605.1:p.Pro182del inframe deletion NM_001350677.1:c.542CTC[1] NP_001337606.1:p.Pro182del inframe deletion NM_001350678.1:c.542CTC[1] NP_001337607.1:p.Pro182del inframe deletion NM_001350679.1:c.542CTC[1] NP_001337608.1:p.Pro182del inframe deletion NM_001350680.1:c.542CTC[1] NP_001337609.1:p.Pro182del inframe deletion NM_001350681.1:c.542CTC[1] NP_001337610.1:p.Pro182del inframe deletion NM_001350682.1:c.542CTC[1] NP_001337611.1:p.Pro182del inframe deletion NM_001350683.1:c.542CTC[1] NP_001337612.1:p.Pro182del inframe deletion NM_001350684.1:c.542CTC[1] NP_001337613.1:p.Pro182del inframe deletion NM_001350685.1:c.542CTC[1] NP_001337614.1:p.Pro182del inframe deletion NM_001350686.1:c.542CTC[1] NP_001337615.1:p.Pro182del inframe deletion NM_001350687.1:c.542CTC[1] NP_001337616.1:p.Pro182del inframe deletion NM_001350688.1:c.542CTC[1] NP_001337617.1:p.Pro182del inframe deletion NM_001350689.1:c.542CTC[1] NP_001337618.1:p.Pro182del inframe deletion NM_001350690.1:c.542CTC[1] NP_001337619.1:p.Pro182del inframe deletion NM_001350691.1:c.542CTC[1] NP_001337620.1:p.Pro182del inframe deletion NM_001350692.1:c.542CTC[1] NP_001337621.1:p.Pro182del inframe deletion NM_001350693.1:c.542CTC[1] NP_001337622.1:p.Pro182del inframe deletion NM_001350694.1:c.542CTC[1] NP_001337623.1:p.Pro182del inframe deletion NM_001350695.1:c.542CTC[1] NP_001337624.1:p.Pro182del inframe deletion NM_001350696.1:c.542CTC[1] NP_001337625.1:p.Pro182del inframe deletion NM_001350697.1:c.542CTC[1] NP_001337626.1:p.Pro182del inframe deletion NM_004912.4:c.542CTC[1] NP_004903.2:p.Pro182del inframe deletion NM_194455.1:c.542CTC[1] NP_919437.1:p.Pro182del inframe deletion NM_194456.1:c.542CTC[1] NP_919438.1:p.Pro182del inframe deletion NC_000007.14:g.92235585GAG[1] NC_000007.13:g.91864899GAG[1] NG_012964.1:g.15511CTC[1] LRG_650:g.15511CTC[1] LRG_650t1:c.542CTC[1] LRG_650p1:p.Pro182del - Protein change
- P182del
- Other names
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- Canonical SPDI
- NC_000007.14:92235584:GAGGAG:GAG
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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 | ||
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| 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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| KRIT1 | - | - |
GRCh38 GRCh37 |
651 | 681 | |
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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Dec 7, 2023 | RCV003873924.2 |
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
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
(Dec 07, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cerebral cavernous malformation
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004679885.1
First in ClinVar: Feb 28, 2024 Last updated: Feb 28, 2024 |
Comment:
This variant, c.545_547del, results in the deletion of 1 amino acid(s) of the KRIT1 protein (p.Pro182del), but otherwise preserves the integrity of the reading frame. … (more)
This variant, c.545_547del, results in the deletion of 1 amino acid(s) of the KRIT1 protein (p.Pro182del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs758571745, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KRIT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (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 variant, c.545_547del, results in the deletion of 1 amino acid(s) of the KRIT1 protein (p.Pro182del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs758571745, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KRIT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
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 30, 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.