NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) AND Autism spectrum disorder

Clinical significance:Benign (Last evaluated: Apr 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000715424.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)]

NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)

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.6787C>T (p.Pro2263Ser)
HGVS:
  • NC_000016.10:g.89279755G>A
  • NG_032003.1:g.215807C>T
  • NG_032003.2:g.215807C>T
  • NM_001256182.2:c.6787C>T
  • NM_001256183.2:c.6787C>T
  • NM_013275.6:c.6787C>TMANE SELECT
  • NP_001243111.1:p.Pro2263Ser
  • NP_001243112.1:p.Pro2263Ser
  • NP_037407.4:p.Pro2263Ser
  • NC_000016.9:g.89346163G>A
  • NM_001256182.1:c.6787C>T
  • NM_013275.4:c.6787C>T
  • NM_013275.5:c.6787C>T
Protein change:
P2263S
Links:
dbSNP: rs76793093
NCBI 1000 Genomes Browser:
rs76793093
Molecular consequence:
  • NM_001256182.2:c.6787C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.6787C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.6787C>T - 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
SCV000846253Ambry Geneticscriteria provided, single submitter
Benign
(Apr 18, 2016)
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, SCV000846253.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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

Last Updated: Oct 16, 2021

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