NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=) AND Autism spectrum disorder

Clinical significance:Benign (Last evaluated: Jun 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000715968.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=)]

NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=)

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.1296G>C (p.Thr432=)
HGVS:
  • NC_000016.10:g.89285246C>G
  • NG_032003.1:g.210316G>C
  • NG_032003.2:g.210316G>C
  • NM_001256182.2:c.1296G>C
  • NM_001256183.2:c.1296G>C
  • NM_013275.6:c.1296G>CMANE SELECT
  • NP_001243111.1:p.Thr432=
  • NP_001243112.1:p.Thr432=
  • NP_037407.4:p.Thr432=
  • NC_000016.9:g.89351654C>G
  • NM_001256182.1:c.1296G>C
  • NM_013275.4:c.1296G>C
  • NM_013275.5:c.1296G>C
  • p.Thr432Thr
Links:
dbSNP: rs74033734
NCBI 1000 Genomes Browser:
rs74033734
Molecular consequence:
  • NM_001256182.2:c.1296G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001256183.2:c.1296G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_013275.6:c.1296G>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Autism spectrum disorder
Synonyms:
Autism spectrum disorders; Autism susceptibility
Identifiers:
MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586; OMIM: PS209850

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000846800Ambry Geneticscriteria provided, single submitter
Benign
(Jun 6, 2016)
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, SCV000846800.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 8, 2021

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