NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 28, 2022
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:: RCV002519008.6

Allele description [Variation Report for NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)]

NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)

HGVS:

NC_000016.10:g.89284131_89284135del
NG_032003.2:g.211428_211432del
NM_001256182.2:c.2408_2412del
NM_001256183.2:c.2408_2412del
NM_013275.6:c.2408_2412delMANE SELECT
NP_001243111.1:p.Lys803fs
NP_001243112.1:p.Lys803fs
NP_037407.4:p.Lys803fs
NC_000016.9:g.89350538_89350542del
NC_000016.9:g.89350539_89350543del
NG_032003.1:g.211428_211432del
NM_001256182.1:c.2408_2412del
NM_001256182.2:c.2408_2412delAAAAA
NM_013275.4:c.2408_2412delAAAAA
NM_013275.5:c.2408_2412del
NM_013275.5:c.2408_2412del5
NM_013275.5:c.2408_2412delAAAAA
NM_013275.6:c.2408_2412delAAAAAMANE SELECT

Protein change:

K803fs

Links:

dbSNP: rs886039902

NCBI 1000 Genomes Browser:

rs886039902

Molecular consequence:

NM_001256182.2:c.2408_2412del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256183.2:c.2408_2412del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013275.6:c.2408_2412del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003636019	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 28, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 27667800, 32124548, 33955014, 35682590 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003636019

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 28, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and genetic aspects of KBG syndrome.

Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, et al.

Am J Med Genet A. 2016 Nov;170(11):2835-2846. doi: 10.1002/ajmg.a.37842. Epub 2016 Sep 26.

PubMed [citation]

PMID:: 27667800
PMCID:: PMC5435101

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC.

Am J Med Genet A. 2020 May;182(5):1073-1083. doi: 10.1002/ajmg.a.61524. Epub 2020 Mar 3.

PubMed [citation]

PMID:: 32124548

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV003636019.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The c.2408_2412delAAAAA (p.K803Rfs*5) alteration, located in exon 9 (coding exon 7) of the ANKRD11 gene, consists of a deletion of 5 nucleotides from position 2408 to 2412, causing a translational frameshift with a predicted alternate stop codon after 5 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported as de novo in multiple unrelated individuals with clinical features of KBG syndrome (Parenti, 2021; Gnazzo, 2020). Additional heterozygous individuals with ANKRD11 variants have been reported in the literature (Low, 2016; Bestetti, 2022). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Dec 22, 2024

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