NM_013275.6(ANKRD11):c.2947_2948del (p.Ser983fs) AND KBG syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV004557277.2

Allele description [Variation Report for NM_013275.6(ANKRD11):c.2947_2948del (p.Ser983fs)]

NM_013275.6(ANKRD11):c.2947_2948del (p.Ser983fs)

Gene:

ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_013275.6(ANKRD11):c.2947_2948del (p.Ser983fs)

HGVS:

NC_000016.10:g.89283595TC[1]
NG_032003.2:g.211965AG[1]
NM_001256182.2:c.2947_2948del
NM_001256183.2:c.2947_2948del
NM_013275.6:c.2947_2948delMANE SELECT
NP_001243111.1:p.Ser983fs
NP_001243112.1:p.Ser983fs
NP_037407.4:p.Ser983fs
NC_000016.9:g.89350003TC[1]

Protein change:

S983fs

Links:

dbSNP: rs2544239269

NCBI 1000 Genomes Browser:

rs2544239269

Molecular consequence:

NM_001256182.2:c.2947_2948del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256183.2:c.2947_2948del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013275.6:c.2947_2948del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: KBG syndrome (KBGS)
Identifiers:: MONDO: MONDO:0007846; MedGen: C0220687; Orphanet: 2332; OMIM: 148050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005046457	HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005046457

HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical 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 HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP), SCV005046457.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

The variant was detected in a 13-years-old boy with autistic behavior, seizure, neurodevelopment delay and short stature. The c.2947_2948del variant in the exon 9 of ANKRD11 (NM_013275.6) results in a premature termination codon producing a truncated protein (p.Ser983TrpfsTer34). This variant is not detected in general population has not been previously reported in pathogenicity data bases (Clinvar, HGMD). In silico tools predict that this variant affects the function of the protein and label it as pathogenic. A genetic study has been carried out in the parents and it is determined that none of them presents the variant, so it appears de novo in our patient. Pathogenic variants in ANKRD11 have been associated with KBG Syndrome (OMIM: 148050), with autosomal dominant inheritance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 16, 2025

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