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NM_005381.3(NCL):c.1991del (p.Gly664fs) AND Autism

Germline classification:
Uncertain significance (1 submission)
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:
RCV004698676.1

Allele description [Variation Report for NM_005381.3(NCL):c.1991del (p.Gly664fs)]

NM_005381.3(NCL):c.1991del (p.Gly664fs)

Gene:
NCL:nucleolin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_005381.3(NCL):c.1991del (p.Gly664fs)
HGVS:
  • NC_000002.12:g.231455467del
  • NG_063788.1:g.450del
  • NM_005381.3:c.1991delMANE SELECT
  • NP_005372.2:p.Gly664fs
  • NC_000002.11:g.232320178del
  • NM_005381.3:c.1991delGMANE SELECT
Protein change:
G664fs
Molecular consequence:
  • NM_005381.3:c.1991del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005200224Centre for Addiction & Mental Health, Centre for Addiction & Mental Health
no assertion criteria provided
Uncertain significancede novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedresearch

Details of each submission

From Centre for Addiction & Mental Health, Centre for Addiction & Mental Health, SCV005200224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided

Description

Gene not previously associated with disease; independent supportng evidence needed

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not provideddiscovery1not providednot providednot provided

Last Updated: Sep 8, 2024