NM_013275.6(ANKRD11):c.6985G>C (p.Val2329Leu) AND Autism spectrum disorder

Clinical significance:Uncertain significance (Last evaluated: May 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000719005.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.6985G>C (p.Val2329Leu)]

NM_013275.6(ANKRD11):c.6985G>C (p.Val2329Leu)

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.6985G>C (p.Val2329Leu)
HGVS:
  • NC_000016.10:g.89279557C>G
  • NG_032003.1:g.216005G>C
  • NG_032003.2:g.216005G>C
  • NM_001256182.2:c.6985G>C
  • NM_001256183.2:c.6985G>C
  • NM_013275.6:c.6985G>CMANE SELECT
  • NP_001243111.1:p.Val2329Leu
  • NP_001243112.1:p.Val2329Leu
  • NP_037407.4:p.Val2329Leu
  • NC_000016.9:g.89345965C>G
  • NM_013275.4:c.6985G>C
Protein change:
V2329L
Links:
dbSNP: rs760933701
NCBI 1000 Genomes Browser:
rs760933701
Molecular consequence:
  • NM_001256182.2:c.6985G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.6985G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.6985G>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
SCV000849869Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 31, 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, SCV000849869.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.V2329L variant (also known as c.6985G>C), located in coding exon 7 of the ANKRD11 gene, results from a G to C substitution at nucleotide position 6985. The valine at codon 2329 is replaced by leucine, an amino acid with highly similar properties. 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 alteration remains unclear.

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

Last Updated: Nov 27, 2021

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