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NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000491389.3

Allele description [Variation Report for NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)]

NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)

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.5317G>T (p.Glu1773Ter)
HGVS:
  • NC_000016.10:g.89281225C>A
  • NG_032003.2:g.214337G>T
  • NM_001256182.2:c.5317G>T
  • NM_001256183.2:c.5317G>T
  • NM_013275.6:c.5317G>TMANE SELECT
  • NP_001243111.1:p.Glu1773Ter
  • NP_001243112.1:p.Glu1773Ter
  • NP_037407.4:p.Glu1773Ter
  • NC_000016.9:g.89347633C>A
  • NG_032003.1:g.214337G>T
  • NM_013275.5:c.5317G>T
Protein change:
E1773*
Links:
dbSNP: rs1114167291
NCBI 1000 Genomes Browser:
rs1114167291
Molecular consequence:
  • NM_001256182.2:c.5317G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256183.2:c.5317G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_013275.6:c.5317G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Astigmatism
Identifiers:
MONDO: MONDO:0011284; MedGen: C0004106; OMIM: 603047; Human Phenotype Ontology: HP:0000483
Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Cryptorchidism
Synonyms:
Cryptorchidism, unilateral or bilateral; undescended testicle
Identifiers:
MONDO: MONDO:0009047; MedGen: C0010417; OMIM: 219050; Human Phenotype Ontology: HP:0000028
Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Esotropia
Identifiers:
MONDO: MONDO:0004896; MedGen: C0014877; Human Phenotype Ontology: HP:0000565
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Retrognathia
Synonyms:
retrognathism
Identifiers:
MedGen: C0035353; Human Phenotype Ontology: HP:0000278
Name:
Hypermetropia
Synonyms:
Hyperopia
Identifiers:
MONDO: MONDO:0004891; MedGen: C0020490; Human Phenotype Ontology: HP:0000540
Name:
Wide nasal bridge
Identifiers:
MedGen: C1849367; Human Phenotype Ontology: HP:0000431
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282201Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia
no assertion criteria provided
Pathogenic
(Jan 10, 2016) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednoresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia, SCV000282201.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 26, 2024