NM_013275.6(ANKRD11):c.5962C>T (p.Pro1988Ser) 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:
RCV000718863.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.5962C>T (p.Pro1988Ser)]

NM_013275.6(ANKRD11):c.5962C>T (p.Pro1988Ser)

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.5962C>T (p.Pro1988Ser)
HGVS:
  • NC_000016.10:g.89280580G>A
  • NG_032003.1:g.214982C>T
  • NG_032003.2:g.214982C>T
  • NM_001256182.2:c.5962C>T
  • NM_001256183.2:c.5962C>T
  • NM_013275.6:c.5962C>TMANE SELECT
  • NP_001243111.1:p.Pro1988Ser
  • NP_001243112.1:p.Pro1988Ser
  • NP_037407.4:p.Pro1988Ser
  • NC_000016.9:g.89346988G>A
  • NM_013275.4:c.5962C>T
Protein change:
P1988S
Links:
dbSNP: rs534220503
NCBI 1000 Genomes Browser:
rs534220503
Molecular consequence:
  • NM_001256182.2:c.5962C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.5962C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.5962C>T - 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
SCV000849727Ambry 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, SCV000849727.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.P1988S variant (also known as c.5962C>T), located in coding exon 7 of the ANKRD11 gene, results from a C to T substitution at nucleotide position 5962. The proline at codon 1988 is replaced by serine, 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

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