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NC_000010.11:g.43077059A>G AND Hirschsprung Disease, Dominant

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 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:
RCV000281211.6

Allele description [Variation Report for NC_000010.11:g.43077059A>G]

NC_000010.11:g.43077059A>G

Genes:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
LOC106736614:RET 5' regulatory region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NC_000010.11:g.43077059A>G
HGVS:
  • NC_000010.11:g.43077059A>G
  • NG_007489.1:g.4991A>G
  • NG_045003.1:g.4246A>G
  • LRG_518:g.4991A>G
  • NC_000010.10:g.43572507A>G
Links:
dbSNP: rs10900296
NCBI 1000 Genomes Browser:
rs10900296

Condition(s)

Name:
Hirschsprung Disease, Dominant
Identifiers:
MedGen: CN239304

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000483063Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000483063.2

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

Last Updated: May 16, 2025