U.S. flag

An official website of the United States government

NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu) AND Cerebral cavernous malformation

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 26, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000985202.1

Allele description [Variation Report for NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu)]

NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu)

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.1400C>T (p.Ser467Leu)
HGVS:
  • NC_000007.14:g.92222833G>A
  • NG_012964.1:g.28268C>T
  • NM_001013406.2:c.1256C>T
  • NM_001350669.1:c.1256C>T
  • NM_001350670.1:c.1256C>T
  • NM_001350671.1:c.686C>T
  • NM_001350672.1:c.1400C>T
  • NM_001350673.1:c.1400C>T
  • NM_001350674.1:c.1400C>T
  • NM_001350675.1:c.1400C>T
  • NM_001350676.1:c.1400C>T
  • NM_001350677.1:c.1400C>T
  • NM_001350678.1:c.1400C>T
  • NM_001350679.1:c.1400C>T
  • NM_001350680.1:c.1400C>T
  • NM_001350681.1:c.1400C>T
  • NM_001350682.1:c.1400C>T
  • NM_001350683.1:c.1400C>T
  • NM_001350684.1:c.1400C>T
  • NM_001350685.1:c.1400C>T
  • NM_001350686.1:c.1400C>T
  • NM_001350687.1:c.1400C>T
  • NM_001350688.1:c.1400C>T
  • NM_001350689.1:c.1400C>T
  • NM_001350690.1:c.1400C>T
  • NM_001350691.1:c.1400C>T
  • NM_001350692.1:c.1400C>T
  • NM_001350693.1:c.1400C>T
  • NM_001350694.1:c.1400C>T
  • NM_001350695.1:c.1400C>T
  • NM_001350696.1:c.1400C>T
  • NM_001350697.1:c.1400C>T
  • NM_004912.4:c.1400C>T
  • NM_194454.3:c.1400C>TMANE SELECT
  • NM_194455.1:c.1400C>T
  • NM_194456.1:c.1400C>T
  • NP_001013424.1:p.Ser419Leu
  • NP_001337598.1:p.Ser419Leu
  • NP_001337599.1:p.Ser419Leu
  • NP_001337600.1:p.Ser229Leu
  • NP_001337601.1:p.Ser467Leu
  • NP_001337602.1:p.Ser467Leu
  • NP_001337603.1:p.Ser467Leu
  • NP_001337604.1:p.Ser467Leu
  • NP_001337605.1:p.Ser467Leu
  • NP_001337606.1:p.Ser467Leu
  • NP_001337607.1:p.Ser467Leu
  • NP_001337608.1:p.Ser467Leu
  • NP_001337609.1:p.Ser467Leu
  • NP_001337610.1:p.Ser467Leu
  • NP_001337611.1:p.Ser467Leu
  • NP_001337612.1:p.Ser467Leu
  • NP_001337613.1:p.Ser467Leu
  • NP_001337614.1:p.Ser467Leu
  • NP_001337615.1:p.Ser467Leu
  • NP_001337616.1:p.Ser467Leu
  • NP_001337617.1:p.Ser467Leu
  • NP_001337618.1:p.Ser467Leu
  • NP_001337619.1:p.Ser467Leu
  • NP_001337620.1:p.Ser467Leu
  • NP_001337621.1:p.Ser467Leu
  • NP_001337622.1:p.Ser467Leu
  • NP_001337623.1:p.Ser467Leu
  • NP_001337624.1:p.Ser467Leu
  • NP_001337625.1:p.Ser467Leu
  • NP_001337626.1:p.Ser467Leu
  • NP_004903.2:p.Ser467Leu
  • NP_919436.1:p.Ser467Leu
  • NP_919437.1:p.Ser467Leu
  • NP_919438.1:p.Ser467Leu
  • LRG_650t1:c.1400C>T
  • LRG_650:g.28268C>T
  • LRG_650p1:p.Ser467Leu
  • NC_000007.13:g.91852147G>A
Protein change:
S229L
Links:
dbSNP: rs1554513911
NCBI 1000 Genomes Browser:
rs1554513911
Molecular consequence:
  • NM_001013406.2:c.1256C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350669.1:c.1256C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350670.1:c.1256C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350671.1:c.686C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350672.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350673.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350674.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350675.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350676.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350677.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350678.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350679.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350680.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350681.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350682.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350683.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350684.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350685.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350686.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350687.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350688.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350689.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350690.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350691.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350692.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350693.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350694.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350695.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350696.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350697.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004912.4:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194454.3:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194455.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194456.1:c.1400C>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001133227Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(Sep 26, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001133227.1

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

Last Updated: Jul 16, 2023