{{Rsnum
|rsid=17158558
|Gene=RET
|Chromosome=10
|position=43124887
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.01699
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=RET
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 98.4 | 1.6 | 0.0
| HCB | 97.7 | 2.3 | 0.0
| JPT | 97.6 | 2.4 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 97.7 | 2.3 | 0.0
| CHD | 96.2 | 3.8 | 0.0
| GIH | 97.0 | 2.0 | 1.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 90.7 | 8.7 | 0.7
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}A complex pattern of mutations involving [[rs17158558]](T) and other mutations simultaneously occurring may - or with greater odds, actually, may not - lead to [[Hirschsprung disease]].{{PMID|9760196}}

{{omim
|desc=HIRSCHSPRUNG DISEASE
|id=164761
|rsnum=17158558
|variant=0036
}}

{{ClinVar
|rsid=17158558
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=43620335
|CHROM=10
|GMAF=0.0169
|dbSNPBuildID=123
|SSR=0
|SAO=1
|VP=0x05026000000014051f110101
|GENEINFO=RET:5979
|GENE_NAME=RET
|GENE_ID=5979
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.43620335C>T
|CLNORIGIN=0
|CLNSIG=255
|Tags=PM;S3D;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.983; 0.01699
|CLNACC=RCV000014965.1; RCV000034774.1; RCV000082055.1
|CLNDBN=Hirschsprung disease 1; not provided; AllHighlyPenetrant
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1439:CN030431:142623:388:204739008; CN169374
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=5841; 164761.0036
|COMMON=1
|Disease=Hirschsprung disease 1; not provided; AllHighlyPenetrant
}}

{{GET Evidence
|gene=RET
|aa_change=Arg982Cys
|aa_change_short=R982C
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs17158558
|overall_frequency_n=174
|overall_frequency_d=10758
|overall_frequency=0.016174
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=!
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualityscore_treatability=3
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.885
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=8
|max_or_disease_name=Hirschsprung Disease
|max_or_case_pos=3
|max_or_case_neg=81
|max_or_control_pos=3
|max_or_control_neg=214
|max_or_or=2.642
|autoscore=6
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}