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NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro) AND Cerebral cavernous malformation 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 4, 2023
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:
RCV003319557.1

Allele description [Variation Report for NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)]

NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)

Gene:
CCM2:CCM2 scaffold protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)
HGVS:
  • NC_000007.14:g.45068563T>C
  • NG_016295.1:g.73376T>C
  • NM_001029835.2:c.656T>C
  • NM_001167934.2:c.419T>C
  • NM_001167935.2:c.472+3917T>C
  • NM_001363458.2:c.593T>C
  • NM_001363459.2:c.419T>C
  • NM_031443.4:c.593T>CMANE SELECT
  • NP_001025006.1:p.Leu219Pro
  • NP_001161406.1:p.Leu140Pro
  • NP_001350387.1:p.Leu198Pro
  • NP_001350388.1:p.Leu140Pro
  • NP_113631.1:p.Leu198Pro
  • NP_113631.1:p.Leu198Pro
  • LRG_664t1:c.656T>C
  • LRG_664t2:c.593T>C
  • LRG_664:g.73376T>C
  • LRG_664p1:p.Leu219Pro
  • LRG_664p2:p.Leu198Pro
  • NC_000007.13:g.45108162T>C
  • NM_031443.3:c.593T>C
  • NR_030770.2:n.675T>C
Protein change:
L140P; LEU198PRO
Links:
OMIM: 607929.0012

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004023349OMIM
no assertion criteria provided
Pathogenic
(Aug 4, 2023)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.

Bergametti F, Viot G, Verny C, Brechard MP, Denier C, Labauge P, Petit P, Nouet A, Viallet F, Chaussenot A, Hervé D, Tournier-Lasserve E, Riant F.

J Med Genet. 2020 Jun;57(6):400-404. doi: 10.1136/jmedgenet-2019-106401. Epub 2020 Jan 14.

PubMed [citation]
PMID:
31937560

Details of each submission

From OMIM, SCV004023349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient (family 6) with cerebral cavernous malformations (CCM2; 603284), Bergametti et al. (2020) identified heterozygosity for a c.593T-C transition (c.593T-C, NM_031443.3) in the CCM2 gene, resulting in a leu198-to-pro (L198P) substitution in the PTB domain. The mutation was identified by sequencing of 3 genes associated with cerebral cavernous malformations. The variant was not present in the gnomAD database. Coimmunoprecipitation studies demonstrated that the L198P mutation resulted in loss of interaction between CCM1 and CCM2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 13, 2023