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NM_013275.6(ANKRD11):c.4616A>G (p.Glu1539Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 14, 2016
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:
RCV002318696.8

Allele description [Variation Report for NM_013275.6(ANKRD11):c.4616A>G (p.Glu1539Gly)]

NM_013275.6(ANKRD11):c.4616A>G (p.Glu1539Gly)

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.4616A>G (p.Glu1539Gly)
HGVS:
  • NC_000016.10:g.89281926T>C
  • NG_032003.2:g.213636A>G
  • NM_001256182.2:c.4616A>G
  • NM_001256183.2:c.4616A>G
  • NM_013275.6:c.4616A>GMANE SELECT
  • NP_001243111.1:p.Glu1539Gly
  • NP_001243112.1:p.Glu1539Gly
  • NP_037407.4:p.Glu1539Gly
  • NC_000016.9:g.89348334T>C
  • NG_032003.1:g.213636A>G
  • NM_013275.4:c.4616A>G
Protein change:
E1539G
Links:
dbSNP: rs751369171
NCBI 1000 Genomes Browser:
rs751369171
Molecular consequence:
  • NM_001256182.2:c.4616A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.4616A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.4616A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000849994Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(May 14, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849994.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.E1539G variant (also known as c.4616A>G), located in coding exon 7 of the ANKRD11 gene, results from an A to G substitution at nucleotide position 4616. The glutamic acid at codon 1539 is replaced by glycine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024