NC_000011.9:g.(?_612625)_(2193840_?)dup AND Autosomal recessive DOPA responsive dystonia

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 16, 2020
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:: RCV001301561.1

Allele description

NC_000011.9:g.(?_612625)_(2193840_?)dup

Genes:

BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
CD151:CD151 molecule (Raph blood group) [Gene - OMIM - HGNC]
DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
EPS8L2:EPS8 signaling adaptor L2 [Gene - OMIM - HGNC]
H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
IGF2-AS:IGF2 antisense RNA [Gene - OMIM - HGNC]
INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
POLR2L:RNA polymerase II, I and III subunit L [Gene - OMIM - HGNC]
AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
CDHR5:cadherin related family member 5 [Gene - OMIM - HGNC]
CRACR2B:calcium release activated channel regulator 2B [Gene - OMIM - HGNC]
CTSD:cathepsin D [Gene - OMIM - HGNC]
CEND1:cell cycle exit and neuronal differentiation 1 [Gene - OMIM - HGNC]
CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
DRD4:dopamine receptor D4 [Gene - OMIM - HGNC]
DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
GATD1:glutamine amidotransferase class 1 domain containing 1 [Gene - HGNC]
IGF2:insulin like growth factor 2 [Gene - OMIM - HGNC]
INS:insulin [Gene - OMIM - HGNC]
IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
IRF7:interferon regulatory factor 7 [Gene - OMIM - HGNC]
KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
LSP1:lymphocyte specific protein 1 [Gene - OMIM - HGNC]
MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]
MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
PIDD1:p53-induced death domain protein 1 [Gene - OMIM - HGNC]
PNPLA2:patatin like phospholipase domain containing 2 [Gene - OMIM - HGNC]
RPLP2:ribosomal protein lateral stalk subunit P2 [Gene - OMIM - HGNC]
SCT:secretin [Gene - OMIM - HGNC]
SLC25A22:solute carrier family 25 member 22 [Gene - OMIM - HGNC]
SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
TSPAN4:tetraspanin 4 [Gene - OMIM - HGNC]
TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
TMEM80:transmembrane protein 80 [Gene - OMIM - HGNC]
TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]
TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]
TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11p15.5

Genomic location:

Chr11: 612625 - 2193840 (on Assembly GRCh37)

Preferred name:

NC_000011.9:g.(?_612625)_(2193840_?)dup

HGVS:

NC_000011.9:g.(?_612625)_(2193840_?)dup

Condition(s)

Name:: Autosomal recessive DOPA responsive dystonia
Synonyms:: Segawa syndrome, autosomal recessive; DYT-TH; TH-deficient dopa-responsive dystonia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011551; MedGen: C2673535; Orphanet: 101150; OMIM: 605407

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001490733	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 16, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001490733

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 16, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001490733.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the TH gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with TH-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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