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NM_194454.3(KRIT1):c.729+2T>C AND Cerebral cavernous malformation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 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:
RCV000593246.1

Allele description [Variation Report for NM_194454.3(KRIT1):c.729+2T>C]

NM_194454.3(KRIT1):c.729+2T>C

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.729+2T>C
HGVS:
  • NC_000007.14:g.92235401A>G
  • NG_012964.1:g.15700T>C
  • NM_001013406.2:c.729+2T>C
  • NM_001350669.1:c.729+2T>C
  • NM_001350670.1:c.729+2T>C
  • NM_001350671.1:c.15+133T>C
  • NM_001350672.1:c.729+2T>C
  • NM_001350673.1:c.729+2T>C
  • NM_001350674.1:c.729+2T>C
  • NM_001350675.1:c.729+2T>C
  • NM_001350676.1:c.729+2T>C
  • NM_001350677.1:c.729+2T>C
  • NM_001350678.1:c.729+2T>C
  • NM_001350679.1:c.729+2T>C
  • NM_001350680.1:c.729+2T>C
  • NM_001350681.1:c.729+2T>C
  • NM_001350682.1:c.729+2T>C
  • NM_001350683.1:c.729+2T>C
  • NM_001350684.1:c.729+2T>C
  • NM_001350685.1:c.729+2T>C
  • NM_001350686.1:c.729+2T>C
  • NM_001350687.1:c.729+2T>C
  • NM_001350688.1:c.729+2T>C
  • NM_001350689.1:c.729+2T>C
  • NM_001350690.1:c.729+2T>C
  • NM_001350691.1:c.729+2T>C
  • NM_001350692.1:c.729+2T>C
  • NM_001350693.1:c.729+2T>C
  • NM_001350694.1:c.729+2T>C
  • NM_001350695.1:c.729+2T>C
  • NM_001350696.1:c.729+2T>C
  • NM_001350697.1:c.729+2T>C
  • NM_004912.4:c.729+2T>C
  • NM_194454.3:c.729+2T>CMANE SELECT
  • NM_194455.1:c.729+2T>C
  • NM_194456.1:c.729+2T>C
  • LRG_650t1:c.729+2T>C
  • LRG_650:g.15700T>C
  • NC_000007.13:g.91864715A>G
Links:
dbSNP: rs1554528541
NCBI 1000 Genomes Browser:
rs1554528541
Molecular consequence:
  • NM_001350671.1:c.15+133T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001013406.2:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350669.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350670.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350672.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350673.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350674.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350675.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350676.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350677.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350678.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350679.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350680.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350681.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350682.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350683.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350684.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350685.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350686.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350687.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350688.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350689.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350690.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350691.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350692.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350693.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350694.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350695.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350696.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001350697.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004912.4:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194454.3:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194455.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194456.1:c.729+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000579368Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 15, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.

Rath M, Jenssen SE, Schwefel K, Spiegler S, Kleimeier D, Sperling C, Kaderali L, Felbor U.

Eur J Med Genet. 2017 Sep;60(9):479-484. doi: 10.1016/j.ejmg.2017.06.007. Epub 2017 Jun 20.

PubMed [citation]
PMID:
28645800

Details of each submission

From Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald, SCV000579368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 16, 2023