NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro) AND Autism spectrum disorder

Clinical significance:Uncertain significance (Last evaluated: Mar 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000719650.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro)]

NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro)

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.7847T>C (p.Leu2616Pro)
HGVS:
  • NC_000016.10:g.89268623A>G
  • NG_032003.1:g.226939T>C
  • NG_032003.2:g.226939T>C
  • NM_001256182.2:c.7847T>C
  • NM_001256183.2:c.7847T>C
  • NM_013275.6:c.7847T>CMANE SELECT
  • NP_001243111.1:p.Leu2616Pro
  • NP_001243112.1:p.Leu2616Pro
  • NP_037407.4:p.Leu2616Pro
  • NC_000016.9:g.89335031A>G
  • NM_013275.4:c.7847T>C
Protein change:
L2616P
Links:
dbSNP: rs1567533174
NCBI 1000 Genomes Browser:
rs1567533174
Molecular consequence:
  • NM_001256182.2:c.7847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.7847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.7847T>C - 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
SCV000850520Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 14, 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, SCV000850520.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.L2616P variant (also known as c.7847T>C), located in coding exon 11 of the ANKRD11 gene, results from a T to C substitution at nucleotide position 7847. The leucine at codon 2616 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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

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