{{Rsnum
|rsid=104893904
|Chromosome=5
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=NKX2-5
|position=173235023
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NKX2-5
}}{{omim
|id=600584
|rsnum=104893904
|variant=0006
}}{{ClinVar
|rsid=104893904
|Reversed=1
|FwdREF=G
|FwdALT=C
|REF=C
|ALT=G
|RSPOS=172662026
|CHROM=5
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000040002110100
|GENEINFO=NKX2-5:1482
|GENE_NAME=NKX2-5
|GENE_ID=1482
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.172662026C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600584.0006
|CLNSIG=5
|CLNCUI=C0039685
|CLNDBN=Tetralogy of Fallot; Atrial septal defect 7 with or without atrioventricular conduction defects; Congenital heart disease
|Disease=Tetralogy of Fallot; Atrial septal defect 7 with or without atrioventricular conduction defects; Congenital heart disease
|CLNACC=RCV000009574.3; RCV000030618.1
|Tags=RV;PM;VLD;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet; MedGen:SNOMED_CT
|CLNDSDBID=C0039685:187500:3303:86299006; C1862388:108900:1479; C0152021:13213009
}}{{GET Evidence
|gene=NKX2-5
|aa_change=Glu21Gln
|aa_change_short=E21Q
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs104893904
|overall_frequency_n=5
|overall_frequency_d=10634
|overall_frequency=0.000470189
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_familial=1
|qualitycomment_familial=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.931
|genetests_testable=Y
|nblosum100=-2
|max_or_disease_name=Isolated Nonsyndromic Congenital Heart Disease/Defects
|max_or_case_pos=1
|max_or_case_neg=5
|max_or_control_pos=0
|max_or_control_neg=100
|max_or_or=INF
|autoscore=5
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=0
|summary_short=Probably nonpathogenic. Reported in a single case of tetralogy of fallot (a congenital heart defect), although an unaffected mother and grandmother were also carriers. A later study also found the variant in an affected family, but the variant did not segregate with disease (other affected family members were *not* carriers) -- they conclude that it is probably a nonpathogenic polymorphism.
}}