ClinVar Genomic variation as it relates to human health
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
Variation ID: 279678 Accession: VCV000279678.62
- Type and length
-
Microsatellite, 5 bp
- Location
-
Cytogenetic: 16q24.3 16: 89284635-89284639 (GRCh38) [ NCBI UCSC ] 16: 89351043-89351047 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 7, 2017 Apr 15, 2024 Dec 1, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_013275.6:c.1903_1907del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_037407.4:p.Lys635fs frameshift NM_013275.6:c.1903_1907delAAACA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_001256182.2:c.1903_1907del NP_001243111.1:p.Lys635fs frameshift NM_001256182.2:c.1903_1907delAAACA NM_001256183.2:c.1903_1907del NP_001243112.1:p.Lys635fs frameshift NC_000016.10:g.89284636GTTTT[1] NC_000016.9:g.89351044GTTTT[1] NG_032003.2:g.210918AAACA[1] - Protein change
- K635fs
- Other names
- -
- Canonical SPDI
- NC_000016.10:89284634:TGTTTTGTTTT:TGTTTT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- RNA degradation by nonsense-mediated decay Variation Ontology [VariO:0347]
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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ANKRD11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2408 | 2572 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (21) |
criteria provided, multiple submitters, no conflicts
|
Nov 12, 2023 | RCV000496332.36 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Dec 1, 2023 | RCV000406838.23 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Jan 1, 2017 | RCV000626912.4 | |
Pathogenic (1) |
criteria provided, single submitter
|
Mar 30, 2016 | RCV000624014.4 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV001003618.3 | |
Pathogenic (2) |
criteria provided, single submitter
|
May 12, 2021 | RCV001249513.4 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV001256985.3 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jan 22, 2021 | RCV001376679.3 | |
Pathogenic (1) |
criteria provided, single submitter
|
- | RCV002274005.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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---|---|---|---|---|---|
Pathogenic
(Aug 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
(Sporadic)
Affected status: yes
Allele origin:
de novo
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
Accession: SCV000586701.1
First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
Comment:
De novo LOF variant in a patient with feeding difficulties, short stature, microcephaly, moderate to severe ID, facial freckling.
Clinical Features:
Intellectual disability (present)
Sex: female
|
|
Pathogenic
(Oct 26, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
de novo
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
Accession: SCV000598143.1
First in ClinVar: Aug 27, 2017 Last updated: Aug 27, 2017 |
Age: 0-9 years
Sex: female
|
|
Likely pathogenic
(Jan 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Clinodactyly of the 5th finger
Conductive hearing impairment Global developmental delay Intellectual disability Ptosis Short foot Short palm Unilateral cryptorchidism
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747615.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
|
|
Pathogenic
(Mar 08, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
|
Genomic Medicine Lab, University of California San Francisco
Study: CSER
Accession: SCV001167576.1 First in ClinVar: Mar 16, 2020 Last updated: Mar 16, 2020 |
Sex: male
Secondary finding: no
|
|
Pathogenic
(Mar 11, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
germline
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
Accession: SCV001423630.1
First in ClinVar: Jul 22, 2020 Last updated: Jul 22, 2020 |
Comment:
[ACMG/AMP: PVS1, PS2, PM2, PS4_Moderate, PP1, PP5] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], … (more)
[ACMG/AMP: PVS1, PS2, PM2, PS4_Moderate, PP1, PP5] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], has previously been observed in multiple unrelated patients with the same phenotype [PS4_Moderate], has been shown to cosegregate with disease in multiple affected family members [PP1], was reported as a pathogenic/likely pathogenic alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory) [PP5]. (less)
|
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Pathogenic
(Jun 05, 2019)
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criteria provided, single submitter
Method: clinical testing
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KBG syndrome
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001429285.1
First in ClinVar: Aug 15, 2020 Last updated: Aug 15, 2020 |
Number of individuals with the variant: 1
|
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Pathogenic
(Oct 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446926.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Hearing impairment (present) , Wide nasal bridge (present) , Delayed speech and language development (present) , Single transverse palmar crease (present) , Global developmental delay … (more)
Hearing impairment (present) , Wide nasal bridge (present) , Delayed speech and language development (present) , Single transverse palmar crease (present) , Global developmental delay (present) , Ventricular septal defect (present) (less)
Sex: female
|
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Pathogenic
(Jul 08, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: unknown
Allele origin:
germline
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001449014.1
First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020 |
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Hand tremor (present) , Language impairment (present) , Sensory impairment (present) , Feeding difficulties (present) , Growth delay (present) , … (more)
Global developmental delay (present) , Hand tremor (present) , Language impairment (present) , Sensory impairment (present) , Feeding difficulties (present) , Growth delay (present) , Short stature (present) , Dysphagia (present) , Relative macrocephaly (present) , Low-frequency hearing loss (present) , Preauricular pit (present) , Esotropia (present) , Prominent nasal bridge (present) , High, narrow palate (present) , Broad hallux (present) , Muscular hypotonia (present) , Brachydactyly (present) , Atrioventricular septal defect (present) (less)
Sex: female
|
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Pathogenic
(Jan 22, 2021)
|
criteria provided, single submitter
Method: research
|
Global developmental delay
Affected status: yes
Allele origin:
unknown,
de novo
|
Institute for Human Genetics, University Hospital Essen
Accession: SCV001478038.1
First in ClinVar: May 10, 2021 Last updated: May 10, 2021 |
Observation 1:
Number of individuals with the variant: 4
Observation 2: Observation 3: Observation 4: |
|
Pathogenic
(May 12, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability
(Sporadic)
Affected status: yes
Allele origin:
de novo
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
Accession: SCV001593256.1
First in ClinVar: May 14, 2021 Last updated: May 14, 2021 |
Comment:
de novo truncating variant absent from gnomAD. ALready pathogenic in ClinVar
Sex: male
|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
germline
|
Genomics England Pilot Project, Genomics England
Accession: SCV001760384.1
First in ClinVar: Jul 27, 2021 Last updated: Jul 27, 2021 |
|
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Pathogenic
(Sep 23, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: yes
Allele origin:
germline
|
Blueprint Genetics
Accession: SCV001832255.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
|
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Pathogenic
(Nov 01, 2021)
|
criteria provided, single submitter
Method: research
|
KBG syndrome
Affected status: yes
Allele origin:
de novo
|
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano
Accession: SCV002097368.1
First in ClinVar: Aug 23, 2022 Last updated: Aug 23, 2022 |
Number of individuals with the variant: 1
Sex: male
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Neurodevelopmental delay
Affected status: yes
Allele origin:
de novo
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV002558912.1
First in ClinVar: Aug 15, 2022 Last updated: Aug 15, 2022 |
|
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Pathogenic
(Sep 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002573020.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function … (more)
The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000279678 / PMID: 25413698). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Generalized hypotonia (present) , Intellectual disability (present) , Seizure (present) , Absent speech (present) , Abnormal facial shape (present) , Broad face (present) , Hypertelorism … (more)
Generalized hypotonia (present) , Intellectual disability (present) , Seizure (present) , Absent speech (present) , Abnormal facial shape (present) , Broad face (present) , Hypertelorism (present) , Wide nasal bridge (present) , Smooth philtrum (present) , Bulbous nose (present) , Macroglossia (present) , Brachydactyly (present) , Split hand (present) , Cryptorchidism (present) (less)
|
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Pathogenic
(Feb 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV002580668.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Number of individuals with the variant: 1
Sex: male
|
|
Pathogenic
(Mar 30, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: yes
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000741382.3
First in ClinVar: Apr 15, 2018 Last updated: Jan 07, 2023 |
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Muscular hypotonia (present) , Unsteady gait (present) , Clumsiness (present) , Frequent falls (present) , Poor coordination (present) , Attention … (more)
Global developmental delay (present) , Muscular hypotonia (present) , Unsteady gait (present) , Clumsiness (present) , Frequent falls (present) , Poor coordination (present) , Attention deficit hyperactivity disorder (present) , Strabismus (present) , Micrognathia (present) , High palate (present) , Heart murmur (present) , Pes planus (present) , Delayed closure of the anterior fontanelle (present) , Wide anterior fontanel (present) , Hypertelorism (present) , Low-set ears (present) , Bulbous nose (present) , Single transverse palmar crease (present) , Polyhydramnios (present) (less)
Sex: male
Ethnicity/Population group: Caucasian/German/Irish/Scottish/French
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Penoscrotal hypospadias (present) , Aortic dilatation (present) , Hip dysplasia (present) , Tracheomalacia (present) , Bicuspid aortic valve (present) , Constipation (present) , Ventricular septal … (more)
Penoscrotal hypospadias (present) , Aortic dilatation (present) , Hip dysplasia (present) , Tracheomalacia (present) , Bicuspid aortic valve (present) , Constipation (present) , Ventricular septal defect (present) , Hypertelorism (present) , Global developmental delay (present) , Cryptorchidism (present) , Coarctation of aorta (present) , Generalized hypotonia (present) , Carious teeth (present) , Epidermal nevus (present) , Failure to thrive (present) , Wide nasal bridge (present) , Androgen insufficiency (present) (less)
Sex: male
Ethnicity/Population group: African American
|
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Pathogenic
(Feb 24, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000329064.8
First in ClinVar: Dec 06, 2016 Last updated: Mar 04, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27605097, 25833229, 28191890, 29158550, 32581362, 25413698, 25424714, 27667800, 25533962, 25363768, 28250421, 28449295, 28135719, 29530238, 31332282, 33048330, 32124548, 32371413, 31981491, 33955014, 33767182) (less)
|
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Pathogenic
(Oct 21, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
germline
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV003807633.1
First in ClinVar: Mar 04, 2023 Last updated: Mar 04, 2023 |
Comment:
ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 supporting, PM6 moderated
Number of individuals with the variant: 1
Clinical Features:
Cardiomyopathy (present) , Dental malocclusion (present) , Long eyelashes (present) , Clinodactyly (present) , Synophrys (present) , Long palpebral fissure (present) , Short foot (present) … (more)
Cardiomyopathy (present) , Dental malocclusion (present) , Long eyelashes (present) , Clinodactyly (present) , Synophrys (present) , Long palpebral fissure (present) , Short foot (present) , Cognitive impairment (present) (less)
Geographic origin: Brazil
Method: Paired-end whole-genome sequencing
|
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Pathogenic
(Sep 20, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV000807329.3
First in ClinVar: Apr 19, 2018 Last updated: Mar 11, 2023 |
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
KBG SYNDROME
Affected status: yes
Allele origin:
germline
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV004046188.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Comment:
This frameshifting variant in exon 9 of 13 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA … (more)
This frameshifting variant in exon 9 of 13 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been previously reported as a heterozygous familial and de novo change in patients with KBG syndrome (PMID: 27667800, 28449295, 27605097, 25533962, 28250421). The c.1903_1907del (p.Lys635GlnfsTer26) variant is absent from the gnomAD population database and thus is presumed to be rare. This result was confirmed by orthogonal testing. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1903_1907del (p.Lys635GlnfsTer26) variant is classified as Pathogenic. (less)
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
unknown
|
Laboratory of Medical Genetics, University of Torino
Accession: SCV004171097.1
First in ClinVar: Dec 02, 2023 Last updated: Dec 02, 2023 |
|
|
Pathogenic
(Dec 27, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003817385.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
|
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Pathogenic
(Nov 12, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001222998.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Lys635Glnfs*26) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Lys635Glnfs*26) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with KBG syndrome (PMID: 25533962, 25833229, 27605097, 27667800, 28250421, 28449295; Invitae). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 279678). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
unknown
|
Molecular Genetics Lab, CHRU Brest
Accession: SCV004697661.1
First in ClinVar: Mar 05, 2024 Last updated: Mar 05, 2024 |
|
|
Pathogenic
(Dec 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001747176.14
First in ClinVar: Jul 10, 2021 Last updated: Apr 15, 2024 |
Comment:
ANKRD11: PS2:Very Strong, PVS1, PM2, PS4:Moderate
Number of individuals with the variant: 5
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: research
|
Conductive hearing impairment
Delayed speech and language development Seizure Global developmental delay Abnormal facial shape
Affected status: yes
Allele origin:
unknown
|
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001162029.1
First in ClinVar: Mar 01, 2020 Last updated: Mar 01, 2020 |
Number of individuals with the variant: 1
|
|
Pathogenic
(Dec 01, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Intellectual disability
Affected status: yes
Allele origin:
de novo
|
Diagnostic Laboratory, Strasbourg University Hospital
Accession: SCV001423503.1
First in ClinVar: Jul 19, 2020 Last updated: Jul 19, 2020 |
Clinical Features:
dysmorphism (present) , slight intellectual disability (present) , delayed walking (present) , big mouth (present) , long ears (present) , short hands (present)
Family history: yes
Sex: male
Tissue: blood
Method: targeted capture
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Rare genetic intellectual disability
Affected status: yes
Allele origin:
de novo
|
Service de Génétique Moléculaire, Hôpital Robert Debré
Accession: SCV001433531.1
First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020 |
|
|
Pathogenic
(Dec 15, 2014)
|
no assertion criteria provided
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
de novo
|
Autoinflammatory diseases unit, CHU de Montpellier
Accession: SCV001438084.1
First in ClinVar: Oct 23, 2020 Last updated: Oct 23, 2020 |
Number of individuals with the variant: 3
Sex: female
|
|
Pathogenic
(Aug 31, 2020)
|
no assertion criteria provided
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
de novo
|
Service de Génétique Moléculaire, Hôpital Robert Debré
Accession: SCV001450672.1
First in ClinVar: Dec 19, 2020 Last updated: Dec 19, 2020 |
|
|
Pathogenic
(Nov 02, 2021)
|
no assertion criteria provided
Method: clinical testing
|
KBG syndrome
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
Accession: SCV002583321.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
KBG syndrome
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000778368.2
First in ClinVar: Apr 19, 2018 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
Functional
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The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
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A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
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A brief description of the result of this method for this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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RNA degradation by nonsense-mediated decay
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Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
Accession: SCV000586701.1
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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ANKRD11 variants: KBG syndrome and beyond. | Parenti I | Clinical genetics | 2021 | PMID: 33955014 |
Whole-genome sequencing of patients with rare diseases in a national health system. | Turro E | Nature | 2020 | PMID: 32581362 |
KBG syndrome: An Australian experience. | Murray N | American journal of medical genetics. Part A | 2017 | PMID: 28449295 |
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. | Miyatake S | Journal of human genetics | 2017 | PMID: 28250421 |
Clinical and genetic aspects of KBG syndrome. | Low K | American journal of medical genetics. Part A | 2016 | PMID: 27667800 |
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. | Goldenberg A | American journal of medical genetics. Part A | 2016 | PMID: 27605097 |
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. | Parenti I | Clinical genetics | 2016 | PMID: 25652421 |
Further delineation of the KBG syndrome caused by ANKRD11 aberrations. | Ockeloen CW | European journal of human genetics : EJHG | 2015 | PMID: 26269249 |
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. | Reynaert N | Hormone research in paediatrics | 2015 | PMID: 25833229 |
Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study | Nature | 2015 | PMID: 25533962 |
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. | Walz K | Human genetics | 2015 | PMID: 25413698 |
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. | Ansari M | Journal of medical genetics | 2014 | PMID: 25125236 |
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. | Sirmaci A | American journal of human genetics | 2011 | PMID: 21782149 |
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Text-mined citations for rs886041125 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.