NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs) AND KBG syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 21, 2020
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:: RCV001258348.2

Allele description [Variation Report for NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs)]

NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs)

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.1896_1897del (p.His632fs)

HGVS:

NC_000016.10:g.89284646_89284647del
NG_032003.2:g.210916_210917del
NM_001256182.2:c.1896_1897del
NM_001256183.2:c.1896_1897del
NM_013275.6:c.1896_1897delMANE SELECT
NP_001243111.1:p.His632fs
NP_001243112.1:p.His632fs
NP_037407.4:p.His632fs
NC_000016.9:g.89351054_89351055del
NG_032003.1:g.210916_210917del

Protein change:

H632fs

Links:

dbSNP: rs2034516672

NCBI 1000 Genomes Browser:

rs2034516672

Molecular consequence:

NM_001256182.2:c.1896_1897del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256183.2:c.1896_1897del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013275.6:c.1896_1897del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: KBG syndrome (KBGS)
Synonyms:: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
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
SCV001435314	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Pathogenic (Aug 21, 2020)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001435314

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Pathogenic
(Aug 21, 2020)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV001435314.1

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

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

Last Updated: Feb 4, 2024

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