NM_013275.6(ANKRD11):c.6063_6071del (p.Pro2022_Pro2024del) AND Autism spectrum disorder

Clinical significance:Uncertain significance (Last evaluated: May 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718864.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.6063_6071del (p.Pro2022_Pro2024del)]

NM_013275.6(ANKRD11):c.6063_6071del (p.Pro2022_Pro2024del)

Gene:
ANKRD11:ankyrin repeat domain 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_013275.6(ANKRD11):c.6063_6071del (p.Pro2022_Pro2024del)
HGVS:
  • NC_000016.10:g.89280472_89280480del
  • NG_032003.1:g.215083_215091del
  • NG_032003.2:g.215083_215091del
  • NM_001256182.2:c.6063_6071del
  • NM_001256183.2:c.6063_6071del
  • NM_013275.6:c.6063_6071delMANE SELECT
  • NP_001243111.1:p.Pro2022_Pro2024del
  • NP_001243112.1:p.Pro2022_Pro2024del
  • NP_037407.4:p.Pro2022_Pro2024del
  • NC_000016.9:g.89346880_89346888del
  • NM_013275.4:c.6063_6071delTCCTGCCCC
Links:
dbSNP: rs771037147
NCBI 1000 Genomes Browser:
rs771037147
Molecular consequence:
  • NM_001256182.2:c.6063_6071del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001256183.2:c.6063_6071del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_013275.6:c.6063_6071del - inframe_deletion - [Sequence Ontology: SO:0001822]
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
SCV000849728Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 28, 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, SCV000849728.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.6063_6071delTCCTGCCCC variant (also known as p.P2022_P2024del) is located in coding exon 7 of the ANKRD11 gene. This variant results from an in-frame TCCTGCCCC deletion at nucleotide positions 6063 to 6071. This results in the in-frame deletion of PAP at codons 2022 to 2024. These amino acid positions are conserved on limited sequence alignment. In addition, this alteration is predicted to be neutral by PROVEAN in silico analysis (Choi Y et al., PLoS ONE 2012; 7(10):e46688). 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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