NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) AND Autism spectrum disorder

Clinical significance:Benign (Last evaluated: Sep 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000717489.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)]

NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)

Gene:
ANKRD11:ankyrin repeat domain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)
HGVS:
  • NC_000016.10:g.89281204C>T
  • NG_032003.1:g.214358G>A
  • NG_032003.2:g.214358G>A
  • NM_001256182.2:c.5338G>A
  • NM_001256183.2:c.5338G>A
  • NM_013275.6:c.5338G>AMANE SELECT
  • NP_001243111.1:p.Ala1780Thr
  • NP_001243112.1:p.Ala1780Thr
  • NP_037407.4:p.Ala1780Thr
  • NC_000016.9:g.89347612C>T
  • NM_001256182.1:c.5338G>A
  • NM_013275.4:c.5338G>A
  • NM_013275.5:c.5338G>A
Protein change:
A1780T
Links:
dbSNP: rs75362060
NCBI 1000 Genomes Browser:
rs75362060
Molecular consequence:
  • NM_001256182.2:c.5338G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.5338G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.5338G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000848341Ambry Geneticscriteria provided, single submitter
Benign
(Sep 5, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848341.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Intact protein function observed in appropriate functional assay(s)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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