NM_013275.6(ANKRD11):c.7167T>G (p.Phe2389Leu) AND Autism spectrum disorder

Clinical significance:Uncertain significance (Last evaluated: Apr 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000719097.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7167T>G (p.Phe2389Leu)]

NM_013275.6(ANKRD11):c.7167T>G (p.Phe2389Leu)

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.7167T>G (p.Phe2389Leu)
HGVS:
  • NC_000016.10:g.89279375A>C
  • NG_032003.1:g.216187T>G
  • NG_032003.2:g.216187T>G
  • NM_001256182.2:c.7167T>G
  • NM_001256183.2:c.7167T>G
  • NM_013275.6:c.7167T>GMANE SELECT
  • NP_001243111.1:p.Phe2389Leu
  • NP_001243112.1:p.Phe2389Leu
  • NP_037407.4:p.Phe2389Leu
  • NC_000016.9:g.89345783A>C
  • NM_013275.4:c.7167T>G
Protein change:
F2389L
Links:
dbSNP: rs927582667
NCBI 1000 Genomes Browser:
rs927582667
Molecular consequence:
  • NM_001256182.2:c.7167T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.7167T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.7167T>G - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849961Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Apr 15, 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, SCV000849961.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.F2389L variant (also known as c.7167T>G), located in coding exon 7 of the ANKRD11 gene, results from a T to G substitution at nucleotide position 7167. The phenylalanine at codon 2389 is replaced by leucine, an amino acid with highly similar 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), 1000 Genomes Project, and ExAC. In the ESP, this variant was not observed in 5899 samples (11798 alleles) with coverage at this position. This amino acid position is not well 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 variant remains unclear.

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

Last Updated: Nov 10, 2021

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