NM_194454.3(KRIT1):c.262+1138G>A AND Cerebral cavernous malformation

Germline classification:: not provided (1 submission)
Last evaluated:: May 15, 2017
Review status:: no classification provided

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:: RCV000594754.1

Allele description [Variation Report for NM_194454.3(KRIT1):c.262+1138G>A]

NM_194454.3(KRIT1):c.262+1138G>A

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.262+1138G>A

HGVS:

NC_000007.14:g.92239855C>T
NG_012964.1:g.11246G>A
NM_001013406.2:c.262+1138G>A
NM_001350669.1:c.262+1138G>A
NM_001350670.1:c.262+1138G>A
NM_001350671.1:c.-322+1138G>A
NM_001350672.1:c.262+1138G>A
NM_001350673.1:c.262+1138G>A
NM_001350674.1:c.262+1138G>A
NM_001350675.1:c.262+1138G>A
NM_001350676.1:c.262+1138G>A
NM_001350677.1:c.262+1138G>A
NM_001350678.1:c.262+1138G>A
NM_001350679.1:c.262+1138G>A
NM_001350680.1:c.262+1138G>A
NM_001350681.1:c.262+1138G>A
NM_001350682.1:c.262+1138G>A
NM_001350683.1:c.262+1138G>A
NM_001350684.1:c.262+1138G>A
NM_001350685.1:c.262+1138G>A
NM_001350686.1:c.262+1138G>A
NM_001350687.1:c.262+1138G>A
NM_001350688.1:c.262+1138G>A
NM_001350689.1:c.262+1138G>A
NM_001350690.1:c.262+1138G>A
NM_001350691.1:c.262+1138G>A
NM_001350692.1:c.262+1138G>A
NM_001350693.1:c.262+1138G>A
NM_001350694.1:c.262+1138G>A
NM_001350695.1:c.262+1138G>A
NM_001350696.1:c.262+1138G>A
NM_001350697.1:c.262+1138G>A
NM_004912.4:c.262+1138G>A
NM_194454.3:c.262+1138G>AMANE SELECT
NM_194455.1:c.262+1138G>A
NM_194456.1:c.262+1138G>A
LRG_650t1:c.262+1138G>A
LRG_650:g.11246G>A
NC_000007.13:g.91869169C>T

Links:

dbSNP: rs560870062

NCBI 1000 Genomes Browser:

rs560870062

Molecular consequence:

NM_001013406.2:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350669.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350670.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350671.1:c.-322+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350672.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350673.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350674.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350675.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350676.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350677.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350678.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350679.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350680.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350681.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350682.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350683.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350684.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350685.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350686.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350687.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350688.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350689.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350690.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350691.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350692.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350693.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350694.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350695.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350696.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350697.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004912.4:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_194454.3:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_194455.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_194456.1:c.262+1138G>A - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

probably no functional consequence

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579377	Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald	no classification provided	not provided	germline, not applicable	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579377

Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald

no classification provided

not provided

germline, not applicable

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not applicable	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

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, SCV000579377.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)
2	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

Bioinformatics evaluation, transcript analysis

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	not applicable	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine