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NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 30, 2023
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:
RCV003373020.2

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)]

NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)

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.7535G>A (p.Arg2512Gln)
HGVS:
  • NC_000016.10:g.89275127C>T
  • NG_032003.2:g.220435G>A
  • NM_001256182.2:c.7535G>A
  • NM_001256183.2:c.7535G>A
  • NM_013275.4:c.7535G>A
  • NM_013275.6:c.7535G>AMANE SELECT
  • NP_001243111.1:p.Arg2512Gln
  • NP_001243112.1:p.Arg2512Gln
  • NP_037407.4:p.Arg2512Gln
  • NC_000016.9:g.89341535C>T
  • NG_032003.1:g.220435G>A
  • NM_001256182.1:c.7535G>A
  • NM_013275.5:c.7535G>A
Protein change:
R2512Q
Links:
dbSNP: rs2033535934
NCBI 1000 Genomes Browser:
rs2033535934
Molecular consequence:
  • NM_001256182.2:c.7535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.7535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.7535G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004071546Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 30, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M.

Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21.

PubMed [citation]
PMID:
25413698

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, et al.

Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Erratum in: Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962.

PubMed [citation]
PMID:
35833929

Details of each submission

From Ambry Genetics, SCV004071546.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.7535G>A (p.R2512Q) alteration is located in exon 10 (coding exon 8) of the ANKRD11 gene. This alteration results from a G to A substitution at nucleotide position 7535, causing the arginine (R) at amino acid position 2512 to be replaced by a glutamine (Q). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation in two individuals with features consistent with KBG syndrome (Walz, 2015; de Boer, 2022). Two other alterations at the same codon, c.7534C>T (p.R2512W) and c.7535G>T (p.R2512L), have been described (de Boer, 2022). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This variant is indicated to disrupt a critical functional motif (Walz, 2015). The in silico prediction for this alteration is inconclusive. Based on the available evidence, this alteration is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024