U.S. flag

An official website of the United States government

NM_031443.4(CCM2):c.584T>G (p.Leu195Arg) AND Cerebral cavernous malformation 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 15, 2016
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:
RCV000681486.2

Allele description [Variation Report for NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)]

NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)

Gene:
CCM2:CCM2 scaffold protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)
HGVS:
  • NC_000007.14:g.45068554T>G
  • NG_016295.1:g.73367T>G
  • NM_001029835.2:c.647T>G
  • NM_001167934.2:c.410T>G
  • NM_001167935.2:c.472+3908T>G
  • NM_001363458.2:c.584T>G
  • NM_001363459.2:c.410T>G
  • NM_031443.4:c.584T>GMANE SELECT
  • NP_001025006.1:p.Leu216Arg
  • NP_001161406.1:p.Leu137Arg
  • NP_001350387.1:p.Leu195Arg
  • NP_001350388.1:p.Leu137Arg
  • NP_113631.1:p.Leu195Arg
  • NP_113631.1:p.Leu195Arg
  • LRG_664t1:c.647T>G
  • LRG_664t2:c.584T>G
  • LRG_664:g.73367T>G
  • LRG_664p1:p.Leu216Arg
  • LRG_664p2:p.Leu195Arg
  • NC_000007.13:g.45108153T>G
  • NM_031443.3:c.584T>G
  • NR_030770.2:n.666T>G
Protein change:
L137R
Links:
dbSNP: rs1562912426
NCBI 1000 Genomes Browser:
rs1562912426
Molecular consequence:
  • NM_001167935.2:c.472+3908T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001029835.2:c.647T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167934.2:c.410T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363458.2:c.584T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363459.2:c.410T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031443.4:c.584T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_030770.2:n.666T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cerebral cavernous malformation 2
Synonyms:
Cerebral cavernous malformations 2
Identifiers:
MONDO: MONDO:0011304; MedGen: C1864041; Orphanet: 221061; OMIM: 603284

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
SCV000808936Hehr Laboratory, Center for Human Genetics Regensburg
no assertion criteria provided
Likely pathogenic
(Nov 15, 2016) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Hehr Laboratory, Center for Human Genetics Regensburg, SCV000808936.1

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

Last Updated: Apr 23, 2022