NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) AND KBG syndrome

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: Apr 24, 2024
Review status:: no classifications from unflagged records

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:: RCV003766774.3

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)]

NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)

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.7814T>G (p.Leu2605Arg)

HGVS:

NC_000016.10:g.89268656A>C
NG_032003.2:g.226906T>G
NM_001256182.2:c.7814T>G
NM_001256183.2:c.7814T>G
NM_013275.6:c.7814T>GMANE SELECT
NP_001243111.1:p.Leu2605Arg
NP_001243112.1:p.Leu2605Arg
NP_037407.4:p.Leu2605Arg
NC_000016.9:g.89335064A>C
NG_032003.1:g.226906T>G
NM_013275.5:c.7814T>G

Protein change:

L2605R

Links:

dbSNP: rs1131691512

NCBI 1000 Genomes Browser:

rs1131691512

Molecular consequence:

NM_001256182.2:c.7814T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256183.2:c.7814T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_013275.6:c.7814T>G - missense variant - [Sequence Ontology: SO:0001583]

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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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004615743.1

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

Description

ClinVar contains an entry for this variant (Variation ID: 429654). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ANKRD11 protein function. This variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2605 of the ANKRD11 protein (p.Leu2605Arg).

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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004615743	Labcorp Genetics (formerly Invitae), Labcorp	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004615743

Labcorp Genetics (formerly Invitae), Labcorp

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 7, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Sep 29, 2024

ClinVar

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