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NM_031443.4(CCM2):c.1283T>G (p.Ile428Ser) AND Vascular dementia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 1, 2020
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:
RCV001263178.2

Allele description [Variation Report for NM_031443.4(CCM2):c.1283T>G (p.Ile428Ser)]

NM_031443.4(CCM2):c.1283T>G (p.Ile428Ser)

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.1283T>G (p.Ile428Ser)
HGVS:
  • NC_000007.14:g.45076005T>G
  • NG_016295.1:g.80818T>G
  • NM_001029835.2:c.1346T>G
  • NM_001167934.2:c.1109T>G
  • NM_001167935.2:c.1010T>G
  • NM_001363458.2:c.1406T>G
  • NM_001363459.2:c.1232T>G
  • NM_031443.4:c.1283T>GMANE SELECT
  • NP_001025006.1:p.Ile449Ser
  • NP_001161406.1:p.Ile370Ser
  • NP_001161407.1:p.Ile337Ser
  • NP_001350387.1:p.Ile469Ser
  • NP_001350388.1:p.Ile411Ser
  • NP_113631.1:p.Ile428Ser
  • LRG_664t1:c.1346T>G
  • LRG_664:g.80818T>G
  • LRG_664p1:p.Ile449Ser
  • NC_000007.13:g.45115604T>G
  • NR_030770.2:n.1365T>G
Protein change:
I337S
Links:
dbSNP: rs1784229890
NCBI 1000 Genomes Browser:
rs1784229890
Molecular consequence:
  • NM_001029835.2:c.1346T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167934.2:c.1109T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167935.2:c.1010T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363458.2:c.1406T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363459.2:c.1232T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031443.4:c.1283T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_030770.2:n.1365T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Vascular dementia
Identifiers:
MONDO: MONDO:0004648; MeSH: D015140; MedGen: C0011269

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001250690Myllykangas group, University of Helsinki
no assertion criteria provided
Uncertain significance
(Apr 1, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Whole-exome sequencing of Finnish patients with vascular cognitive impairment.

Mönkäre S, Kuuluvainen L, Kun-Rodrigues C, Carmona S, Schleutker J, Bras J, Pöyhönen M, Guerreiro R, Myllykangas L.

Eur J Hum Genet. 2021 Apr;29(4):663-671. doi: 10.1038/s41431-020-00775-9. Epub 2020 Dec 2.

PubMed [citation]
PMID:
33268848
PMCID:
PMC8115269

Details of each submission

From Myllykangas group, University of Helsinki, SCV001250690.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022