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NM_194456.1(KRIT1):c.846-5dup

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Mar 14, 2019)
Last evaluated:
Jan 19, 2018
Accession:
VCV000360888.2
Variation ID:
360888
Description:
1bp duplication
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NM_194456.1(KRIT1):c.846-5dup

Allele ID
303568
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
7q21.2
Genomic location
7: 92234596-92234597 (GRCh38) GRCh38 UCSC
7: 91863910-91863911 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.91863911dup
NC_000007.14:g.92234597dup
NM_001350672.1:c.846-5dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:92234596:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (TT)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00063
1000 Genomes Project 0.00180
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00288
Trans-Omics for Precision Medicine (TOPMed) 0.00196
The Genome Aggregation Database (gnomAD), exomes 0.00053
The Genome Aggregation Database (gnomAD) 0.00201
Links
dbSNP: rs373763254
ClinGen: CA4339277
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000316426.3
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000357228.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 19, 2018 RCV000721904.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KRIT1 - - GRCh38
GRCh37
353 383

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000470447.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Cerebral Cavernous Malformation
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000470446.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Oct 09, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000853056.1
Submitted: (Oct 12, 2018)
Evidence details
Benign
(Jan 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000644724.2
Submitted: (Mar 14, 2019)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs373763254...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 23, 2021