NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu) AND not provided

Clinical significance:Benign (Last evaluated: Oct 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001541761.2

Allele description [Variation Report for NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu)]

NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu)

Gene:
ANKRD11:ankyrin repeat domain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu)
HGVS:
  • NC_000016.10:g.89280877T>C
  • NG_032003.1:g.214685A>G
  • NG_032003.2:g.214685A>G
  • NM_001256182.2:c.5665A>G
  • NM_001256183.2:c.5665A>G
  • NM_013275.6:c.5665A>GMANE SELECT
  • NP_001243111.1:p.Lys1889Glu
  • NP_001243112.1:p.Lys1889Glu
  • NP_037407.4:p.Lys1889Glu
  • NC_000016.9:g.89347285T>C
  • NM_013275.4:c.5665A>G
  • NM_013275.5:c.5665A>G
Protein change:
K1889E
Links:
dbSNP: rs202034147
NCBI 1000 Genomes Browser:
rs202034147
Molecular consequence:
  • NM_001256182.2:c.5665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256183.2:c.5665A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013275.6:c.5665A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001759794GeneDxcriteria provided, single submitter
Benign
(Oct 13, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001759794.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 2, 2021

Support Center