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NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys) AND Cerebral cavernous malformation

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 15, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001160245.4

Allele description [Variation Report for NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)]

NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)

Gene:
KRIT1:KRIT1 ankyrin repeat containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)
HGVS:
  • NC_000007.14:g.92242090G>A
  • NG_012964.1:g.9011C>T
  • NM_001013406.2:c.46C>T
  • NM_001350669.1:c.46C>T
  • NM_001350670.1:c.46C>T
  • NM_001350671.1:c.-538C>T
  • NM_001350672.1:c.46C>T
  • NM_001350673.1:c.46C>T
  • NM_001350674.1:c.46C>T
  • NM_001350675.1:c.46C>T
  • NM_001350676.1:c.46C>T
  • NM_001350677.1:c.46C>T
  • NM_001350678.1:c.46C>T
  • NM_001350679.1:c.46C>T
  • NM_001350680.1:c.46C>T
  • NM_001350681.1:c.46C>T
  • NM_001350682.1:c.46C>T
  • NM_001350683.1:c.46C>T
  • NM_001350684.1:c.46C>T
  • NM_001350685.1:c.46C>T
  • NM_001350686.1:c.46C>T
  • NM_001350687.1:c.46C>T
  • NM_001350688.1:c.46C>T
  • NM_001350689.1:c.46C>T
  • NM_001350690.1:c.46C>T
  • NM_001350691.1:c.46C>T
  • NM_001350692.1:c.46C>T
  • NM_001350693.1:c.46C>T
  • NM_001350694.1:c.46C>T
  • NM_001350695.1:c.46C>T
  • NM_001350696.1:c.46C>T
  • NM_001350697.1:c.46C>T
  • NM_004912.4:c.46C>T
  • NM_194454.3:c.46C>TMANE SELECT
  • NM_194455.1:c.46C>T
  • NM_194456.1:c.46C>T
  • NP_001013424.1:p.Arg16Cys
  • NP_001337598.1:p.Arg16Cys
  • NP_001337599.1:p.Arg16Cys
  • NP_001337601.1:p.Arg16Cys
  • NP_001337602.1:p.Arg16Cys
  • NP_001337603.1:p.Arg16Cys
  • NP_001337604.1:p.Arg16Cys
  • NP_001337605.1:p.Arg16Cys
  • NP_001337606.1:p.Arg16Cys
  • NP_001337607.1:p.Arg16Cys
  • NP_001337608.1:p.Arg16Cys
  • NP_001337609.1:p.Arg16Cys
  • NP_001337610.1:p.Arg16Cys
  • NP_001337611.1:p.Arg16Cys
  • NP_001337612.1:p.Arg16Cys
  • NP_001337613.1:p.Arg16Cys
  • NP_001337614.1:p.Arg16Cys
  • NP_001337615.1:p.Arg16Cys
  • NP_001337616.1:p.Arg16Cys
  • NP_001337617.1:p.Arg16Cys
  • NP_001337618.1:p.Arg16Cys
  • NP_001337619.1:p.Arg16Cys
  • NP_001337620.1:p.Arg16Cys
  • NP_001337621.1:p.Arg16Cys
  • NP_001337622.1:p.Arg16Cys
  • NP_001337623.1:p.Arg16Cys
  • NP_001337624.1:p.Arg16Cys
  • NP_001337625.1:p.Arg16Cys
  • NP_001337626.1:p.Arg16Cys
  • NP_004903.2:p.Arg16Cys
  • NP_919436.1:p.Arg16Cys
  • NP_919437.1:p.Arg16Cys
  • NP_919438.1:p.Arg16Cys
  • LRG_650t1:c.46C>T
  • LRG_650:g.9011C>T
  • LRG_650p1:p.Arg16Cys
  • NC_000007.13:g.91871404G>A
Protein change:
R16C
Links:
dbSNP: rs370360812
NCBI 1000 Genomes Browser:
rs370360812
Molecular consequence:
  • NM_001350671.1:c.-538C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001013406.2:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350669.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350670.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350672.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350673.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350674.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350675.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350676.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350677.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350678.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350679.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350680.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350681.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350682.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350683.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350684.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350685.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350686.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350687.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350688.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350689.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350690.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350691.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350692.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350693.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350694.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350695.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350696.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350697.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004912.4:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194454.3:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194455.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194456.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebral cavernous malformation (CCM)
Synonyms:
CAVERNOUS ANGIOMA, FAMILIAL; CAVERNOUS ANGIOMATOUS MALFORMATIONS; CEREBRAL CAPILLARY MALFORMATIONS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0000820; MedGen: C2919945; Orphanet: 221061; OMIM: 116860; Human Phenotype Ontology: HP:0033522

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001322031Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Oct 15, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.

Fisher OS, Liu W, Zhang R, Stiegler AL, Ghedia S, Weber JL, Boggon TJ.

J Biol Chem. 2015 Jan 30;290(5):2842-53. doi: 10.1074/jbc.M114.616433. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525273
PMCID:
PMC4317034

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001322031.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 16, 2023