NM_013275.6(ANKRD11):c.2518C>T (p.Arg840Trp) AND Autism spectrum disorder

Clinical significance:Uncertain significance (Last evaluated: Nov 17, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000719913.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.2518C>T (p.Arg840Trp)]

NM_013275.6(ANKRD11):c.2518C>T (p.Arg840Trp)

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.2518C>T (p.Arg840Trp)
HGVS:
  • NC_000016.10:g.89284024G>A
  • NG_032003.1:g.211538C>T
  • NG_032003.2:g.211538C>T
  • NM_001256182.2:c.2518C>T
  • NM_001256183.2:c.2518C>T
  • NM_013275.6:c.2518C>TMANE SELECT
  • NP_001243111.1:p.Arg840Trp
  • NP_001243112.1:p.Arg840Trp
  • NP_037407.4:p.Arg840Trp
  • NC_000016.9:g.89350432G>A
  • NM_013275.4:c.2518C>T
Protein change:
R840W
Links:
dbSNP: rs761259443
NCBI 1000 Genomes Browser:
rs761259443
Molecular consequence:
  • NM_001256182.2:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.2518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.2518C>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

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
SCV000850785Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Nov 17, 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, SCV000850785.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R840W variant (also known as c.2518C>T), located in coding exon 7 of the ANKRD11 gene, results from a C to T substitution at nucleotide position 2518. The arginine at codon 840 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 27, 2021

Support Center