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NM_013275.6(ANKRD11):c.7937_7938dup (p.Phe2647fs) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 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:
RCV002222981.1

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7937_7938dup (p.Phe2647fs)]

NM_013275.6(ANKRD11):c.7937_7938dup (p.Phe2647fs)

Gene:
ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_013275.6(ANKRD11):c.7937_7938dup (p.Phe2647fs)
HGVS:
  • NC_000016.10:g.89268532_89268533dup
  • NG_032003.2:g.227029_227030dup
  • NM_001256182.2:c.7937_7938dup
  • NM_001256183.2:c.7937_7938dup
  • NM_013275.6:c.7937_7938dupMANE SELECT
  • NP_001243111.1:p.Phe2647fs
  • NP_001243112.1:p.Phe2647fs
  • NP_037407.4:p.Phe2647fs
  • NC_000016.9:g.89334940_89334941dup
  • NM_013275.5:c.7937_7938dupCC
Protein change:
F2647fs
Links:
dbSNP: rs2151660554
NCBI 1000 Genomes Browser:
rs2151660554
Molecular consequence:
  • NM_001256182.2:c.7937_7938dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256183.2:c.7937_7938dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013275.6:c.7937_7938dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002500430Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 16, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002500430.1

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

Description

Variant summary: ANKRD11 c.7937_7938dupCC (p.Phe2647ProfsX39) causes a frameshift which results in an extension of the protein. The variant was absent in 153494 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7937_7938dupCC in individuals affected with KBG Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Protein extensions have not been reported to be associated with KBG Syndrome in HGMD. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Dec 24, 2023