NM_013275.6(ANKRD11):c.4928C>A (p.Pro1643Gln) AND Autism spectrum disorder

Clinical significance:Uncertain significance (Last evaluated: Jan 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716861.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.4928C>A (p.Pro1643Gln)]

NM_013275.6(ANKRD11):c.4928C>A (p.Pro1643Gln)

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.4928C>A (p.Pro1643Gln)
HGVS:
  • NC_000016.10:g.89281614G>T
  • NG_032003.1:g.213948C>A
  • NG_032003.2:g.213948C>A
  • NM_001256182.2:c.4928C>A
  • NM_001256183.2:c.4928C>A
  • NM_013275.6:c.4928C>AMANE SELECT
  • NP_001243111.1:p.Pro1643Gln
  • NP_001243112.1:p.Pro1643Gln
  • NP_037407.4:p.Pro1643Gln
  • NC_000016.9:g.89348022G>T
  • NM_013275.4:c.4928C>A
Protein change:
P1643Q
Links:
dbSNP: rs147690079
NCBI 1000 Genomes Browser:
rs147690079
Molecular consequence:
  • NM_001256182.2:c.4928C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.4928C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.4928C>A - 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
SCV000847705Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jan 30, 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, SCV000847705.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.P1643Q variant (also known as c.4928C>A), located in coding exon 7 of the ANKRD11 gene, results from a C to A substitution at nucleotide position 4928. The proline at codon 1643 is replaced by glutamine, an amino acid with similar properties. This amino acid position is poorly 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 10, 2021

Support Center