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NC_000004.12:g.8398067_17505522inv AND Dihydropteridine reductase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2019
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:
RCV000768549.4

Allele description [Variation Report for NC_000004.12:g.8398067_17505522inv]

NC_000004.12:g.8398067_17505522inv

Genes:
  • LOC129992221:ATAC-STARR-seq lymphoblastoid active region 21292 [Gene]
  • LOC129992223:ATAC-STARR-seq lymphoblastoid active region 21293 [Gene]
  • LOC129992224:ATAC-STARR-seq lymphoblastoid active region 21294 [Gene]
  • LOC129992225:ATAC-STARR-seq lymphoblastoid active region 21296 [Gene]
  • LOC129992226:ATAC-STARR-seq lymphoblastoid active region 21297 [Gene]
  • LOC129992227:ATAC-STARR-seq lymphoblastoid active region 21298 [Gene]
  • LOC129992228:ATAC-STARR-seq lymphoblastoid active region 21299 [Gene]
  • LOC129992229:ATAC-STARR-seq lymphoblastoid active region 21300 [Gene]
  • LOC129992237:ATAC-STARR-seq lymphoblastoid active region 21302 [Gene]
  • LOC129992239:ATAC-STARR-seq lymphoblastoid active region 21303 [Gene]
  • LOC129992240:ATAC-STARR-seq lymphoblastoid active region 21304 [Gene]
  • LOC129992241:ATAC-STARR-seq lymphoblastoid active region 21306 [Gene]
  • LOC129992243:ATAC-STARR-seq lymphoblastoid active region 21307 [Gene]
  • LOC129992248:ATAC-STARR-seq lymphoblastoid active region 21310 [Gene]
  • LOC129992249:ATAC-STARR-seq lymphoblastoid active region 21311 [Gene]
  • LOC129992250:ATAC-STARR-seq lymphoblastoid active region 21312 [Gene]
  • LOC129992252:ATAC-STARR-seq lymphoblastoid active region 21314 [Gene]
  • LOC129992253:ATAC-STARR-seq lymphoblastoid active region 21315 [Gene]
  • LOC129992254:ATAC-STARR-seq lymphoblastoid active region 21316 [Gene]
  • LOC129992255:ATAC-STARR-seq lymphoblastoid active region 21317 [Gene]
  • LOC129992256:ATAC-STARR-seq lymphoblastoid active region 21318 [Gene]
  • LOC129992257:ATAC-STARR-seq lymphoblastoid active region 21319 [Gene]
  • LOC129992258:ATAC-STARR-seq lymphoblastoid active region 21320 [Gene]
  • LOC129992260:ATAC-STARR-seq lymphoblastoid active region 21321 [Gene]
  • LOC129992262:ATAC-STARR-seq lymphoblastoid active region 21322 [Gene]
  • LOC129992263:ATAC-STARR-seq lymphoblastoid active region 21323 [Gene]
  • LOC129992264:ATAC-STARR-seq lymphoblastoid active region 21325 [Gene]
  • LOC129992267:ATAC-STARR-seq lymphoblastoid active region 21326 [Gene]
  • LOC129992269:ATAC-STARR-seq lymphoblastoid active region 21328 [Gene]
  • LOC129992270:ATAC-STARR-seq lymphoblastoid active region 21329 [Gene]
  • LOC129992271:ATAC-STARR-seq lymphoblastoid active region 21330 [Gene]
  • LOC129992272:ATAC-STARR-seq lymphoblastoid active region 21331 [Gene]
  • LOC129992273:ATAC-STARR-seq lymphoblastoid active region 21333 [Gene]
  • LOC129992274:ATAC-STARR-seq lymphoblastoid active region 21334 [Gene]
  • LOC129992275:ATAC-STARR-seq lymphoblastoid active region 21335 [Gene]
  • LOC129992280:ATAC-STARR-seq lymphoblastoid active region 21337 [Gene]
  • LOC129992281:ATAC-STARR-seq lymphoblastoid active region 21338 [Gene]
  • LOC129992282:ATAC-STARR-seq lymphoblastoid active region 21339 [Gene]
  • LOC129992286:ATAC-STARR-seq lymphoblastoid active region 21340 [Gene]
  • LOC129992287:ATAC-STARR-seq lymphoblastoid active region 21341 [Gene]
  • LOC129992288:ATAC-STARR-seq lymphoblastoid active region 21342 [Gene]
  • LOC129992289:ATAC-STARR-seq lymphoblastoid active region 21343 [Gene]
  • LOC129992291:ATAC-STARR-seq lymphoblastoid active region 21344 [Gene]
  • LOC129992294:ATAC-STARR-seq lymphoblastoid active region 21346 [Gene]
  • LOC129992301:ATAC-STARR-seq lymphoblastoid active region 21347 [Gene]
  • LOC129992303:ATAC-STARR-seq lymphoblastoid active region 21348 [Gene]
  • LOC129992222:ATAC-STARR-seq lymphoblastoid silent region 15263 [Gene]
  • LOC129992230:ATAC-STARR-seq lymphoblastoid silent region 15266 [Gene]
  • LOC129992231:ATAC-STARR-seq lymphoblastoid silent region 15267 [Gene]
  • LOC129992232:ATAC-STARR-seq lymphoblastoid silent region 15268 [Gene]
  • LOC129992233:ATAC-STARR-seq lymphoblastoid silent region 15269 [Gene]
  • LOC129992234:ATAC-STARR-seq lymphoblastoid silent region 15270 [Gene]
  • LOC129992235:ATAC-STARR-seq lymphoblastoid silent region 15271 [Gene]
  • LOC129992236:ATAC-STARR-seq lymphoblastoid silent region 15272 [Gene]
  • LOC129992238:ATAC-STARR-seq lymphoblastoid silent region 15273 [Gene]
  • LOC129992242:ATAC-STARR-seq lymphoblastoid silent region 15274 [Gene]
  • LOC129992244:ATAC-STARR-seq lymphoblastoid silent region 15275 [Gene]
  • LOC129992245:ATAC-STARR-seq lymphoblastoid silent region 15276 [Gene]
  • LOC129992246:ATAC-STARR-seq lymphoblastoid silent region 15278 [Gene]
  • LOC129992247:ATAC-STARR-seq lymphoblastoid silent region 15279 [Gene]
  • LOC129992251:ATAC-STARR-seq lymphoblastoid silent region 15281 [Gene]
  • LOC129992259:ATAC-STARR-seq lymphoblastoid silent region 15282 [Gene]
  • LOC129992261:ATAC-STARR-seq lymphoblastoid silent region 15283 [Gene]
  • LOC129992265:ATAC-STARR-seq lymphoblastoid silent region 15286 [Gene]
  • LOC129992266:ATAC-STARR-seq lymphoblastoid silent region 15288 [Gene]
  • LOC129992268:ATAC-STARR-seq lymphoblastoid silent region 15289 [Gene]
  • LOC129992276:ATAC-STARR-seq lymphoblastoid silent region 15291 [Gene]
  • LOC129992277:ATAC-STARR-seq lymphoblastoid silent region 15292 [Gene]
  • LOC129992278:ATAC-STARR-seq lymphoblastoid silent region 15293 [Gene]
  • LOC129992279:ATAC-STARR-seq lymphoblastoid silent region 15294 [Gene]
  • LOC129992283:ATAC-STARR-seq lymphoblastoid silent region 15296 [Gene]
  • LOC129992284:ATAC-STARR-seq lymphoblastoid silent region 15297 [Gene]
  • LOC129992285:ATAC-STARR-seq lymphoblastoid silent region 15298 [Gene]
  • LOC129992290:ATAC-STARR-seq lymphoblastoid silent region 15300 [Gene]
  • LOC129992292:ATAC-STARR-seq lymphoblastoid silent region 15301 [Gene]
  • LOC129992293:ATAC-STARR-seq lymphoblastoid silent region 15302 [Gene]
  • LOC129992295:ATAC-STARR-seq lymphoblastoid silent region 15303 [Gene]
  • LOC129992296:ATAC-STARR-seq lymphoblastoid silent region 15304 [Gene]
  • LOC129992297:ATAC-STARR-seq lymphoblastoid silent region 15305 [Gene]
  • LOC129992298:ATAC-STARR-seq lymphoblastoid silent region 15306 [Gene]
  • LOC129992299:ATAC-STARR-seq lymphoblastoid silent region 15307 [Gene]
  • LOC129992300:ATAC-STARR-seq lymphoblastoid silent region 15308 [Gene]
  • LOC129992302:ATAC-STARR-seq lymphoblastoid silent region 15309 [Gene]
  • LOC126806971:BRD4-independent group 4 enhancer GRCh37_chr4:10007559-10008758 [Gene]
  • LOC126806988:BRD4-independent group 4 enhancer GRCh37_chr4:15151436-15152635 [Gene]
  • LOC126806992:BRD4-independent group 4 enhancer GRCh37_chr4:16694053-16695252 [Gene]
  • C1QTNF7-AS1:C1QTNF7 antisense RNA 1 [Gene - HGNC]
  • C1QTNF7:C1q and TNF related 7 [Gene - HGNC]
  • CD38:CD38 molecule [Gene - OMIM - HGNC]
  • LOC126806974:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:10807763-10808962 [Gene]
  • LOC126806975:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:11398409-11399608 [Gene]
  • LOC126806976:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:11506548-11507747 [Gene]
  • LOC126806977:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:11633687-11634886 [Gene]
  • LOC126806979:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:11700041-11701240 [Gene]
  • LOC126806982:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:13524914-13526113 [Gene]
  • LOC126806983:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:13893421-13894620 [Gene]
  • LOC126806985:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:13908590-13909789 [Gene]
  • LOC126806986:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:14337797-14338996 [Gene]
  • LOC126806987:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:14857565-14858764 [Gene]
  • LOC126806990:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:15775252-15776451 [Gene]
  • LOC126806970:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:9945957-9947156 [Gene]
  • CPEB2-DT:CPEB2 divergent transcript [Gene - HGNC]
  • LOC116158485:CRISPRi-validated cis-regulatory element chr4.979 [Gene]
  • FBXL5:F-box and leucine rich repeat protein 5 [Gene - OMIM - HGNC]
  • GPR78:G protein-coupled receptor 78 [Gene - OMIM - HGNC]
  • HMX1:H6 family homeobox 1 [Gene - OMIM - HGNC]
  • LDB2:LIM domain binding 2 [Gene - OMIM - HGNC]
  • LOC126806973:MED14-independent group 3 enhancer GRCh37_chr4:10130393-10131592 [Gene]
  • LOC126806991:MED14-independent group 3 enhancer GRCh37_chr4:16362034-16363233 [Gene]
  • NKX3-2:NK3 homeobox 2 [Gene - OMIM - HGNC]
  • LOC132089075:Neanderthal introgressed variant-containing enhancer experimental_75724 [Gene]
  • LOC126806972:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:10097252-10098451 [Gene]
  • LOC126806978:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:11651807-11653006 [Gene]
  • LOC126806980:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:12422706-12423905 [Gene]
  • LOC126806981:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:12432477-12433676 [Gene]
  • LOC126806984:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:13906696-13907895 [Gene]
  • LOC126806989:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:15183990-15185189 [Gene]
  • LOC126806993:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:17028696-17029895 [Gene]
  • RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]
  • SLC2A9-AS1:SLC2A9 antisense RNA 1 [Gene - HGNC]
  • LOC112939924:Sharpr-MPRA regulatory region 11631 [Gene]
  • LOC121048740:Sharpr-MPRA regulatory region 12016 [Gene]
  • LOC121725169:Sharpr-MPRA regulatory region 1402 [Gene]
  • LOC123477707:Sharpr-MPRA regulatory region 15154 [Gene]
  • LOC123477709:Sharpr-MPRA regulatory region 15531 [Gene]
  • LOC121048739:Sharpr-MPRA regulatory region 2307 [Gene]
  • LOC123466233:Sharpr-MPRA regulatory region 388 [Gene]
  • LOC112997536:Sharpr-MPRA regulatory region 4448 [Gene]
  • LOC123466234:Sharpr-MPRA regulatory region 4472 [Gene]
  • LOC123466232:Sharpr-MPRA regulatory region 5160 [Gene]
  • LOC123466235:Sharpr-MPRA regulatory region 8730 [Gene]
  • LOC123477710:Sharpr-MPRA regulatory region 8789 [Gene]
  • LOC123466231:Sharpr-MPRA regulatory region 9254 [Gene]
  • LOC123477708:Sharpr-MPRA regulatory region 9620 [Gene]
  • LOC111828517:Sharpr-MPRA regulatory regions 1971 and 3941 [Gene]
  • TAPT1-AS1:TAPT1 antisense RNA 1 (head to head) [Gene - HGNC]
  • LOC114827818:VISTA enhancer hs1247 [Gene]
  • LOC110120633:VISTA enhancer hs259 [Gene]
  • LOC110120784:VISTA enhancer hs842 [Gene]
  • WDR1:WD repeat domain 1 [Gene - OMIM - HGNC]
  • ACOX3:acyl-CoA oxidase 3, pristanoyl [Gene - OMIM - HGNC]
  • BOD1L1:biorientation of chromosomes in cell division 1 like 1 [Gene - OMIM - HGNC]
  • BST1:bone marrow stromal cell antigen 1 [Gene - OMIM - HGNC]
  • CPZ:carboxypeptidase Z [Gene - OMIM - HGNC]
  • CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
  • CLNK:cytokine dependent hematopoietic cell linker [Gene - OMIM - HGNC]
  • CPEB2:cytoplasmic polyadenylation element binding protein 2 [Gene - OMIM - HGNC]
  • DEFB131A:defensin beta 131A [Gene - HGNC]
  • DRD5:dopamine receptor D5 [Gene - OMIM - HGNC]
  • FAM200B:family with sequence similarity 200 member B [Gene - HGNC]
  • FAM90A26:family with sequence similarity 90 member A26 [Gene - HGNC]
  • FGFBP1:fibroblast growth factor binding protein 1 [Gene - OMIM - HGNC]
  • FGFBP2:fibroblast growth factor binding protein 2 [Gene - OMIM - HGNC]
  • HS3ST1:heparan sulfate-glucosamine 3-sulfotransferase 1 [Gene - OMIM - HGNC]
  • LINC01085:long intergenic non-protein coding RNA 1085 [Gene - HGNC]
  • LINC01096:long intergenic non-protein coding RNA 1096 [Gene - HGNC]
  • LINC01097:long intergenic non-protein coding RNA 1097 [Gene - HGNC]
  • LINC01182:long intergenic non-protein coding RNA 1182 [Gene - HGNC]
  • LINC02270:long intergenic non-protein coding RNA 2270 [Gene - HGNC]
  • LINC02360:long intergenic non-protein coding RNA 2360 [Gene - HGNC]
  • LINC02493:long intergenic non-protein coding RNA 2493 [Gene - HGNC]
  • LINC00504:long intergenic non-protein coding RNA 504 [Gene - HGNC]
  • MIR12113:microRNA 12113 [Gene - HGNC]
  • MIR3138:microRNA 3138 [Gene - HGNC]
  • MIR5091:microRNA 5091 [Gene - HGNC]
  • MIR548I2:microRNA 548i-2 [Gene - HGNC]
  • MIR572:microRNA 572 [Gene - HGNC]
  • PROM1:prominin 1 [Gene - OMIM - HGNC]
  • QDPR:quinoid dihydropteridine reductase [Gene - OMIM - HGNC]
  • SNORA75B:small nucleolar RNA, H/ACA box 75B [Gene - HGNC]
  • SLC2A9:solute carrier family 2 member 9 [Gene - OMIM - HGNC]
  • TRMT44:tRNA methyltransferase 44 homolog [Gene - OMIM - HGNC]
  • TAPT1:transmembrane anterior posterior transformation 1 [Gene - OMIM - HGNC]
  • USP17L10:ubiquitin specific peptidase 17 like family member 10 [Gene - HGNC]
  • USP17L11:ubiquitin specific peptidase 17 like family member 11 [Gene - HGNC]
  • USP17L12:ubiquitin specific peptidase 17 like family member 12 [Gene - HGNC]
  • USP17L13:ubiquitin specific peptidase 17 like family member 13 [Gene - HGNC]
  • USP17L15:ubiquitin specific peptidase 17 like family member 15 [Gene - HGNC]
  • USP17L17:ubiquitin specific peptidase 17 like family member 17 [Gene - HGNC]
  • USP17L18:ubiquitin specific peptidase 17 like family member 18 [Gene - HGNC]
  • USP17L19:ubiquitin specific peptidase 17 like family member 19 [Gene - HGNC]
  • USP17L20:ubiquitin specific peptidase 17 like family member 20 [Gene - HGNC]
  • USP17L21:ubiquitin specific peptidase 17 like family member 21 [Gene - HGNC]
  • USP17L22:ubiquitin specific peptidase 17 like family member 22 [Gene - HGNC]
  • USP17L24:ubiquitin specific peptidase 17 like family member 24 [Gene - HGNC]
  • USP17L25:ubiquitin specific peptidase 17 like family member 25 [Gene - HGNC]
  • USP17L26:ubiquitin specific peptidase 17 like family member 26 [Gene - HGNC]
  • USP17L27:ubiquitin specific peptidase 17 like family member 27 [Gene - HGNC]
  • USP17L28:ubiquitin specific peptidase 17 like family member 28 [Gene - HGNC]
  • USP17L29:ubiquitin specific peptidase 17 like family member 29 [Gene - HGNC]
  • USP17L30:ubiquitin specific peptidase 17 like family member 30 [Gene - HGNC]
  • USP17L5:ubiquitin specific peptidase 17 like family member 5 [Gene - HGNC]
  • LOC101928532:uncharacterized LOC101928532 [Gene]
  • LOC107986178:uncharacterized LOC107986178 [Gene]
  • ZNF518B:zinc finger protein 518B [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
4p16.1-15.32
Genomic location:
Chr4: 8398067 - 17505522 (on Assembly GRCh38)
Preferred name:
NC_000004.12:g.8398067_17505522inv
HGVS:
NC_000004.12:g.8398067_17505522inv
Functional consequence:
No function

Condition(s)

Name:
Dihydropteridine reductase deficiency (HPABH4C)
Synonyms:
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY; Quinoid dihydropteridine reductase deficiency; Phenylketonuria II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009862; MedGen: C0268465; Orphanet: 226; Orphanet: 238583; OMIM: 261630

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000898485Genetics and Personalized Medicine Clinic, Tartu University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 20, 2019) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Estoniangermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetics and Personalized Medicine Clinic, Tartu University Hospital, SCV000898485.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Estonian1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023