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NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) AND ANKRD11-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 20, 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:
RCV003403140.4

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:
ANKRD11-related disorder
Synonyms:
ANKRD11-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004105204PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 20, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 PreventionGenetics, part of Exact Sciences, SCV004105204.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The ANKRD11 c.7814T>G variant is predicted to result in the amino acid substitution p.Leu2605Arg. This variant was reported with de novo occurrence in two individuals described in a large KBG study and determined to be pathogenic. One individual had classic features of KBG syndrome and the other had neurodevelopmental delays but lacked recognizable dysmorphic features (Figure 1, Figure 2 C (individual 28) and Table S5, de Boer et al. 2022. PubMed ID: 35833929). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. This variant resides in the C-terminal RD2 domain, a region enriched for disease-associated variants and depleted of natural variation (de Boer et al. 2022. PubMed ID: 35833929). Taken together, this variant is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024