NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter) AND Global developmental delay

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 22, 2021
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:: RCV001376680.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter)]

NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter)

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.4218C>A (p.Tyr1406Ter)

Other names:

p.Tyr1406Ter

HGVS:

NC_000016.10:g.89282324G>T
NG_032003.2:g.213238C>A
NM_001256182.2:c.4218C>A
NM_001256183.2:c.4218C>A
NM_013275.6:c.4218C>AMANE SELECT
NP_001243111.1:p.Tyr1406Ter
NP_001243112.1:p.Tyr1406Ter
NP_037407.4:p.Tyr1406Ter
NC_000016.9:g.89348732G>T
NG_032003.1:g.213238C>A
NM_013275.5:c.4218C>A

Protein change:

Y1406*

Links:

dbSNP: rs764501022

NCBI 1000 Genomes Browser:

rs764501022

Molecular consequence:

NM_001256182.2:c.4218C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001256183.2:c.4218C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_013275.6:c.4218C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001478039	Institute for Human Genetics, University Hospital Essen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 22, 2021)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 33955014

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001478039

Institute for Human Genetics, University Hospital Essen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 22, 2021)

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

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

ANKRD11 variants: KBG syndrome and beyond.

Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, et al.

Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14.

PubMed [citation]

PMID:: 33955014

Details of each submission

From Institute for Human Genetics, University Hospital Essen, SCV001478039.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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