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NM_001761.3(CCNF):c.373G>A (p.Glu125Lys) AND Frontotemporal dementia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 2, 2022
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:
RCV001848611.2

Allele description [Variation Report for NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)]

NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)

Gene:
CCNF:cyclin F [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)
HGVS:
  • NC_000016.10:g.2437155G>A
  • NM_001323538.2:c.-552G>A
  • NM_001761.3:c.373G>AMANE SELECT
  • NP_001752.2:p.Glu125Lys
  • NC_000016.9:g.2487156G>A
Protein change:
E125K
Links:
dbSNP: rs376056912
NCBI 1000 Genomes Browser:
rs376056912
Molecular consequence:
  • NM_001323538.2:c.-552G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001761.3:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Frontotemporal dementia (FTD)
Synonyms:
FRONTOTEMPORAL LOBE DEMENTIA; WILHELMSEN-LYNCH DISEASE; Dementia, frontotemporal, with parkinsonism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0017276; MedGen: C0338451; Orphanet: 282; OMIM: 600274; Human Phenotype Ontology: HP:0002145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106325Guerreiro-Bras Laboratory, Van Andel Institute
no assertion criteria provided
Likely pathogenic
(Feb 2, 2022) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Guerreiro-Bras Laboratory, Van Andel Institute, SCV002106325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasiannot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023