NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs) AND KBG syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 4, 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:: RCV002287484.2

Allele description [Variation Report for NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs)]

NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs)

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.6882_6883del (p.Glu2295fs)

HGVS:

NC_000016.10:g.89279659_89279660del
NG_032003.2:g.215902_215903del
NM_001256182.2:c.6882_6883del
NM_001256183.2:c.6882_6883del
NM_013275.6:c.6882_6883delMANE SELECT
NP_001243111.1:p.Glu2295fs
NP_001243112.1:p.Glu2295fs
NP_037407.4:p.Glu2295fs
NC_000016.9:g.89346067_89346068del
NG_032003.1:g.215902_215903del
NM_001256182.1:c.6882_6883del

Protein change:

E2295fs

Links:

dbSNP: rs2033996047

NCBI 1000 Genomes Browser:

rs2033996047

Molecular consequence:

NM_001256182.2:c.6882_6883del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256183.2:c.6882_6883del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013275.6:c.6882_6883del - 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
SCV002577678	Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	criteria provided, single submitter (Parc Tauli Hospital Assertion Criteria 2021)	Pathogenic (Oct 4, 2022)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002577678

Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)

Pathogenic
(Oct 4, 2022)

de novo

clinical testing

Citation Link

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	clinical testing

Details of each submission

From Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV002577678.1

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

Description

PVS1;PM2_supporting;PM6;PP5

#	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: May 7, 2024

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