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NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) AND Intellectual disability

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 17, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001251206.3

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)]

NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)

Gene:
ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)
HGVS:
  • NC_000016.10:g.89268656A>C
  • NG_032003.2:g.226906T>G
  • NM_001256182.2:c.7814T>G
  • NM_001256183.2:c.7814T>G
  • NM_013275.6:c.7814T>GMANE SELECT
  • NP_001243111.1:p.Leu2605Arg
  • NP_001243112.1:p.Leu2605Arg
  • NP_037407.4:p.Leu2605Arg
  • NC_000016.9:g.89335064A>C
  • NG_032003.1:g.226906T>G
  • NM_013275.5:c.7814T>G
Protein change:
L2605R
Links:
dbSNP: rs1131691512
NCBI 1000 Genomes Browser:
rs1131691512
Molecular consequence:
  • NM_001256182.2:c.7814T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.7814T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.7814T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423561Génétique des Maladies du Développement, Hospices Civils de Lyon
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 17, 2020) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001423561.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

de novo variant absent from gnomAD previsously considered likely pathogenic in Clinvar. Bioinformatic pathogenic prediction

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024