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NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 2, 2017
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:
RCV000481896.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs)]

NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs)

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.3309del (p.Asp1104fs)
HGVS:
  • NC_000016.10:g.89283240del
  • NG_032003.1:g.212329del
  • NG_032003.2:g.212329del
  • NM_001256182.2:c.3309del
  • NM_001256183.2:c.3309del
  • NM_013275.6:c.3309delMANE SELECT
  • NP_001243111.1:p.Asp1104fs
  • NP_001243112.1:p.Asp1104fs
  • NP_037407.4:p.Asp1104fs
  • NC_000016.9:g.89349648del
  • NM_013275.5:c.3309delA
Protein change:
D1104fs
Links:
dbSNP: rs772267579
NCBI 1000 Genomes Browser:
rs772267579
Molecular consequence:
  • NM_001256182.2:c.3309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256183.2:c.3309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013275.6:c.3309del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000573915GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 2, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000573915.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3309delA variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3309delA variant causes a frameshift starting with codon Aspartic Acid 1104, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 214 of the new reading frame, denoted p.Asp1104MetfsX214. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3309delA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret c.3309delA as a pathogenic variant

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

Last Updated: Apr 23, 2022