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NM_006767.4(LZTR1):c.774del (p.Phe258fs) AND Autism spectrum disorder

Germline classification:
association (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:
RCV001291506.1

Allele description [Variation Report for NM_006767.4(LZTR1):c.774del (p.Phe258fs)]

NM_006767.4(LZTR1):c.774del (p.Phe258fs)

Gene:
LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_006767.4(LZTR1):c.774del (p.Phe258fs)
Other names:
p.Phe258Leufs*93
HGVS:
  • NC_000022.11:g.20990508del
  • NG_034193.1:g.13240del
  • NM_006767.4:c.774delMANE SELECT
  • NP_006758.2:p.Phe258fs
  • LRG_989t1:c.774del
  • LRG_989:g.13240del
  • LRG_989p1:p.Phe258fs
  • NC_000022.10:g.21344795del
  • NC_000022.10:g.21344797del
  • NM_006767.3:c.774del
  • NM_006767.3:c.774delT
  • NM_006767.4:c.772delTMANE SELECT
Protein change:
F258fs
Links:
dbSNP: rs780267761
NCBI 1000 Genomes Browser:
rs780267761
Molecular consequence:
  • NM_006767.4:c.774del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autism spectrum disorder
Synonyms:
Autism spectrum disorders
Identifiers:
MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001480011University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
associationinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE.

Genet Med. 2019 Jul;21(7):1611-1620. doi: 10.1038/s41436-018-0380-2. Epub 2018 Dec 3.

PubMed [citation]
PMID:
30504930
PMCID:
PMC6546556

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001480011.1

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

Last Updated: Nov 24, 2024