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NM_013275.6(ANKRD11):c.7806+4G>A AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001698191.25

Allele description [Variation Report for NM_013275.6(ANKRD11):c.7806+4G>A]

NM_013275.6(ANKRD11):c.7806+4G>A

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.7806+4G>A
HGVS:
  • NC_000016.10:g.89270813C>T
  • NG_032003.2:g.224749G>A
  • NM_001256182.2:c.7806+4G>A
  • NM_001256183.2:c.7806+4G>A
  • NM_013275.6:c.7806+4G>AMANE SELECT
  • NC_000016.9:g.89337221C>T
  • NG_032003.1:g.224749G>A
  • NM_013275.5:c.7806+4G>A
Links:
dbSNP: rs373180876
NCBI 1000 Genomes Browser:
rs373180876
Molecular consequence:
  • NM_001256182.2:c.7806+4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256183.2:c.7806+4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_013275.6:c.7806+4G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000532009GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Oct 1, 2020) 		germlineclinical testing

Citation Link,

SCV002498204CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Feb 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000532009.5

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

From CeGaT Center for Human Genetics Tuebingen, SCV002498204.18

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024