NM_194456.1(KRIT1):c.846-5dup AND Cerebral cavernous malformation

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000316426.3

Allele description [Variation Report for NM_194456.1(KRIT1):c.846-5dup]

NM_194456.1(KRIT1):c.846-5dup

Gene:
KRIT1:KRIT1 ankyrin repeat containing [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_194456.1(KRIT1):c.846-5dup
HGVS:
  • NC_000007.14:g.92234597dup
  • NG_012964.1:g.16504dup
  • NM_001013406.2:c.845+211dup
  • NM_001350669.1:c.845+211dup
  • NM_001350670.1:c.845+211dup
  • NM_001350671.1:c.132-5dup
  • NM_001350672.1:c.846-5dup
  • NM_001350673.1:c.846-5dup
  • NM_001350674.1:c.846-5dup
  • NM_001350675.1:c.846-5dup
  • NM_001350676.1:c.846-5dup
  • NM_001350677.1:c.846-5dup
  • NM_001350678.1:c.846-5dup
  • NM_001350679.1:c.846-5dup
  • NM_001350680.1:c.846-5dup
  • NM_001350681.1:c.846-5dup
  • NM_001350682.1:c.846-5dup
  • NM_001350683.1:c.846-5dup
  • NM_001350684.1:c.846-5dup
  • NM_001350685.1:c.846-5dup
  • NM_001350686.1:c.846-5dup
  • NM_001350687.1:c.846-5dup
  • NM_001350688.1:c.846-5dup
  • NM_001350689.1:c.846-5dup
  • NM_001350690.1:c.846-5dup
  • NM_001350691.1:c.846-5dup
  • NM_001350692.1:c.846-5dup
  • NM_001350693.1:c.846-5dup
  • NM_001350694.1:c.846-5dup
  • NM_001350695.1:c.846-5dup
  • NM_001350696.1:c.846-5dup
  • NM_001350697.1:c.846-5dup
  • NM_004912.4:c.846-5dup
  • NM_194454.2:c.846-5dup
  • NM_194455.1:c.846-5dup
  • NM_194456.1:c.846-5dup
  • LRG_650t1:c.846-5dup
  • LRG_650:g.16504dup
  • NC_000007.13:g.91863911dup
  • NM_194456.1:c.846-5dupA
Links:
dbSNP: rs373763254
NCBI 1000 Genomes Browser:
rs373763254
Molecular consequence:
  • NM_001013406.2:c.845+211dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350669.1:c.845+211dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350670.1:c.845+211dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350671.1:c.132-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350672.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350673.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350674.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350675.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350676.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350677.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350678.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350679.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350680.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350681.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350682.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350683.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350684.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350685.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350686.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350687.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350688.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350689.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350690.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350691.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350692.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350693.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350694.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350695.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350696.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350697.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004912.4:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_194454.2:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_194455.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_194456.1:c.846-5dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000470446Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000470446.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2021

Support Center