NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly) AND KBG syndrome

Germline classification:: Likely pathogenic (1 submission)
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:: RCV002275041.2

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly)]

NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly)

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.7354C>G (p.Arg2452Gly)

HGVS:

NC_000016.10:g.89279188G>C
NG_032003.1:g.216374C>G
NG_032003.2:g.216374C>G
NM_001256182.2:c.7354C>G
NM_001256183.2:c.7354C>G
NM_013275.6:c.7354C>GMANE SELECT
NP_001243111.1:p.Arg2452Gly
NP_001243112.1:p.Arg2452Gly
NP_037407.4:p.Arg2452Gly
NC_000016.9:g.89345596G>C
NM_013275.5:c.7354C>G

Protein change:

R2452G

Links:

dbSNP: rs1064795497

NCBI 1000 Genomes Browser:

rs1064795497

Molecular consequence:

NM_001256182.2:c.7354C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256183.2:c.7354C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_013275.6:c.7354C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV002562763	Genome Medicine, Institute for Basic Research in Developmental Disabilities	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 35970914, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002562763

Genome Medicine, Institute for Basic Research in Developmental Disabilities

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

de novo

clinical testing

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	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

Guo L, Park J, Yi E, Marchi E, Hsieh TC, Kibalnyk Y, Moreno-Sáez Y, Biskup S, Puk O, Beger C, Li Q, Wang K, Voronova A, Krawitz PM, Lyon GJ.

Eur J Hum Genet. 2022 Nov;30(11):1244-1254. doi: 10.1038/s41431-022-01171-1. Epub 2022 Aug 15.

PubMed [citation]

PMID:: 35970914
PMCID:: PMC9626563

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

Details of each submission

From Genome Medicine, Institute for Basic Research in Developmental Disabilities, SCV002562763.2

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

Description

KBG syndrome

#	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		1	not provided	not provided	not provided

Last Updated: Sep 3, 2022

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