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NM_194456.1(KRIT1):c.1980A>G (p.Val660=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 27, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000263098.8
Variation ID:
263098
Description:
single nucleotide variant
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NM_194456.1(KRIT1):c.1980A>G (p.Val660=)

Allele ID
252960
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.2
Genomic location
7: 92213240 (GRCh38) GRCh38 UCSC
7: 91842554 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_650t1:c.1980A>G LRG_650p1:p.Val660=
LRG_650:g.37861A>G
NC_000007.13:g.91842554T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:92213239:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.18051 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.10234
The Genome Aggregation Database (gnomAD) 0.11683
The Genome Aggregation Database (gnomAD), exomes 0.12665
1000 Genomes Project 0.18051
Trans-Omics for Precision Medicine (TOPMed) 0.12228
Exome Aggregation Consortium (ExAC) 0.12888
Links
ClinGen: CA4338991
dbSNP: rs11542682
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Nov 27, 2020 RCV000316905.5
Benign 2 criteria provided, multiple submitters, no conflicts Nov 24, 2017 RCV000711046.2
Benign 2 criteria provided, single submitter Apr 3, 2018 RCV000242381.4
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV000275757.2
Benign 1 criteria provided, single submitter Aug 25, 2020 RCV001283067.1
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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
362 393

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 03, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000316893.2
Submitted: (Oct 12, 2018)
Evidence details
Benign
(Mar 22, 2016)
criteria provided, single submitter
Method: clinical testing
Cerebral cavernous malformation
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743181.1
Submitted: (Apr 17, 2018)
Evidence details
Benign
(Nov 24, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841373.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Angiokeratoma corporis diffusum with arteriovenous fistulas
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000470428.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Cerebral cavernous malformation
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000470429.3
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Aug 25, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000604084.3
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Cerebral cavernous malformation
Allele origin: germline
Invitae
Accession: SCV001720795.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001942678.1
Submitted: (Sep 27, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 23485406, 20419355)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925267.1
Submitted: (Sep 23, 2021)
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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Title Author Journal Year Link
Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation. Pileggi S Journal of molecular neuroscience : MN 2010 PMID: 20419355

Text-mined citations for rs11542682...

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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 Sep 29, 2021