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NM_194456.1(KRIT1):c.1809T>C (p.His603=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000263097.4
Variation ID:
263097
Description:
single nucleotide variant
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NM_194456.1(KRIT1):c.1809T>C (p.His603=)

Allele ID
252961
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.2
Genomic location
7: 92213901 (GRCh38) GRCh38 UCSC
7: 91843215 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.91843215A>G
NC_000007.14:g.92213901A>G
NM_001013406.2:c.1665T>C NP_001013424.1:p.His555= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:92213900:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00051
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00013
Exome Aggregation Consortium (ExAC) 0.00052
Links
ClinGen: CA4339024
dbSNP: rs149754162
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV001087175.2
Likely benign 1 criteria provided, single submitter - RCV000250617.1
Likely benign 1 criteria provided, single submitter Jul 7, 2015 RCV000721863.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001158796.1
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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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000316892.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jul 07, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000853011.1
Submitted: (Oct 12, 2018)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Cerebral cavernous malformation
Allele origin: germline
Invitae
Accession: SCV001015312.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cerebral cavernous malformation
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001320453.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Angiokeratoma corporis diffusum with arteriovenous fistulas
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001320454.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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 rs149754162...

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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