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NM_013275.6(ANKRD11):c.7799G>A (p.Arg2600His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 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:
RCV002317494.9

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7799G>A (p.Arg2600His)]

NM_013275.6(ANKRD11):c.7799G>A (p.Arg2600His)

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.7799G>A (p.Arg2600His)
HGVS:
  • NC_000016.10:g.89270824C>T
  • NG_032003.2:g.224738G>A
  • NM_001256182.2:c.7799G>A
  • NM_001256183.2:c.7799G>A
  • NM_013275.6:c.7799G>AMANE SELECT
  • NP_001243111.1:p.Arg2600His
  • NP_001243112.1:p.Arg2600His
  • NP_037407.4:p.Arg2600His
  • NC_000016.9:g.89337232C>T
  • NG_032003.1:g.224738G>A
  • NM_013275.4:c.7799G>A
Protein change:
R2600H
Links:
dbSNP: rs1354874973
NCBI 1000 Genomes Browser:
rs1354874973
Molecular consequence:
  • NM_001256182.2:c.7799G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.7799G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.7799G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000850893Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 24, 2017) 		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 Ambry Genetics, SCV000850893.4

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

Description

The p.R2600H variant (also known as c.7799G>A), located in coding exon 10 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 7799. The arginine at codon 2600 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024