NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 27, 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:: RCV001266330.5

Allele description [Variation Report for NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)]

NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)

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.2398_2401del (p.Glu800fs)

HGVS:

NC_000016.10:g.89284144_89284147del
NG_032003.2:g.211418_211421del
NM_001256182.2:c.2398_2401del
NM_001256183.2:c.2398_2401del
NM_013275.6:c.2398_2401delMANE SELECT
NP_001243111.1:p.Glu800fs
NP_001243112.1:p.Glu800fs
NP_037407.4:p.Glu800fs
NC_000016.10:g.89284141_89284144delTTTC
NC_000016.9:g.89350549_89350552del
NC_000016.9:g.89350552_89350555del
NG_032003.1:g.211418_211421del
NM_001256182.1:c.2398_2401del
NM_001256182.1:c.2398_2401delGAAA
NM_001256182.2:c.2398_2401delGAAA
NM_013275.4:c.2398_2401del
NM_013275.4:c.2398_2401delGAAA
NM_013275.5:c.2398_2401del
NM_013275.5:c.2398_2401delGAAA
NM_013275.6:c.2398_2401delGAAAMANE SELECT

Protein change:

E800fs

Links:

dbSNP: rs797045027

NCBI 1000 Genomes Browser:

rs797045027

Molecular consequence:

NM_001256182.2:c.2398_2401del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256183.2:c.2398_2401del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013275.6:c.2398_2401del - 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
SCV001444504	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 27, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25464108, 27605097, 35330407 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444504

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 27, 2022)

germline

clinical testing

PubMed (3)
[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

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.

Kim HJ, Cho E, Park JB, Im WY, Kim HJ.

Eur J Med Genet. 2015 Feb;58(2):86-94. doi: 10.1016/j.ejmg.2014.11.003. Epub 2014 Nov 20.

PubMed [citation]

PMID:: 25464108

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, et al.

Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.

PubMed [citation]

PMID:: 27605097

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001444504.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The c.2398_2401delGAAA (p.E800Nfs*62) alteration, located in exon 9 (coding exon 7) of the ANKRD11 gene, consists of a deletion of 4 nucleotides from position 2398 to 2401, causing a translational frameshift with a predicted alternate stop codon after 62 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 variant has been reported as a de novo mutation in multiple unrelated individuals with clinical features of KBG syndrome (Goldenberg, 2016; Gao, 2022). In addition, it has been found to segregate with disease in one family (Kim, 2015). 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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