NM_000306.4(POU1F1):c.666-5G>A AND Frontotemporal dementia

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000363552.1

Allele description [Variation Report for NM_000306.4(POU1F1):c.666-5G>A]

NM_000306.4(POU1F1):c.666-5G>A

Genes:
CHMP2B:charged multivesicular body protein 2B [Gene - OMIM - HGNC]
POU1F1:POU class 1 homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p11.2
Genomic location:
Preferred name:
NM_000306.4(POU1F1):c.666-5G>A
HGVS:
  • NC_000003.12:g.87260109C>T
  • NG_008225.2:g.21479G>A
  • NM_000306.4:c.666-5G>AMANE SELECT
  • NM_001122757.3:c.744-5G>A
  • NC_000003.11:g.87309259C>T
  • NM_000306.2:c.666-5G>A
Links:
dbSNP: rs76296626
NCBI 1000 Genomes Browser:
rs76296626
Molecular consequence:
  • NM_000306.4:c.666-5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001122757.3:c.744-5G>A - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000484072Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000484072.2

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

Last Updated: Sep 7, 2021

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