NM_000267.3(NF1):c.1721+21dup AND Autism spectrum disorder

Clinical significance:Likely pathogenic (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000754672.1

Allele description [Variation Report for NM_000267.3(NF1):c.1721+21dup]

NM_000267.3(NF1):c.1721+21dup

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_000267.3(NF1):c.1721+21dup
HGVS:
  • NC_000017.11:g.31221950dup
  • NG_009018.1:g.131974dup
  • NM_000267.3:c.1721+21dup
  • NM_001042492.2:c.1721+21dup
  • NM_001128147.3:c.1742dup
  • NP_001121619.1:p.Leu581fs
  • LRG_214t1:c.1721+21dup
  • LRG_214t2:c.1721+21dup
  • LRG_214:g.131974dup
  • NC_000017.10:g.29548968dup
  • NM_001128147.2:c.1742dupT
Protein change:
L581fs
Links:
dbSNP: rs762735676
NCBI 1000 Genomes Browser:
rs762735676
Molecular consequence:
  • NM_001128147.3:c.1742dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000267.3:c.1721+21dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042492.2:c.1721+21dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Autism spectrum disorder
Synonyms:
Autism spectrum disorders; Autism susceptibility
Identifiers:
MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586; OMIM: PS209850

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804764Liping Wei Laboratory,Peking Universitycriteria provided, single submitter
Likely pathogenic
(Aug 1, 2018)
maternalresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesematernalyes3not providednot provided3not providedresearch

Citations

PubMed

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Zhou WZ, Zhang J, Li Z, Lin X, Li J, Wang S, Yang C, Wu Q, Ye AY, Wang M, Wang D, Pu TZ, Wu YY, Wei L.

Hum Mutat. 2019 Jun;40(6):801-815. doi: 10.1002/humu.23724. Epub 2019 Apr 29.

PubMed [citation]
PMID:
30763456
PMCID:
PMC6593842

Details of each submission

From Liping Wei Laboratory,Peking University, SCV000804764.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedresearch PubMed (1)
2Chinese1not providednot providedresearch PubMed (1)
3Chinese1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided
2maternalyes1not providednot provided1not providednot providednot provided
3maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 2, 2021

Support Center