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NM_001953.4(TYMP):c.929-6_929-3del AND Fatal Infantile Cardioencephalomyopathy

Germline classification:
Likely 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:
RCV000374728.14

Allele description [Variation Report for NM_001953.4(TYMP):c.929-6_929-3del]

NM_001953.4(TYMP):c.929-6_929-3del

Genes:
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
LOC130067862:ATAC-STARR-seq lymphoblastoid silent region 13986 [Gene]
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_001953.4(TYMP):c.929-6_929-3del
HGVS:
  • NC_000022.10:g.50964913_50964916del
  • NC_000022.11:g.50526480CGGG[1]
  • NG_011860.1:g.8600CCGC[1]
  • NG_016235.1:g.4954CCGC[1]
  • NG_021419.1:g.23265CGGG[1]
  • NG_202277.1:g.801CGGG[1]
  • NM_001113755.3:c.929-6_929-3del
  • NM_001113756.3:c.929-6_929-3del
  • NM_001257988.1:c.929-6_929-3del
  • NM_001257989.1:c.929-6_929-3del
  • NM_001953.5:c.929-6_929-3delMANE SELECT
  • LRG_727t1:c.929-6_929-3del
  • LRG_727t2:c.929-6_929-3del
  • LRG_727:g.8600CCGC[1]
  • NC_000022.10:g.50964908_50964911del
  • NC_000022.10:g.50964908_50964911delGCGG
  • NC_000022.10:g.50964909CGGG[1]
  • NC_000022.10:g.50964913_50964916del
  • NC_000022.10:g.50964913_50964916delCGGG
  • NC_000022.10:g.50964913_50964916delCGGG
  • NM_001113756.2:c.929-6_929-3delCCGC
  • NM_001169109.1:c.-250_-247del
  • NM_001257989.1:c.929-6_929-3delCCGC
  • NM_001953.3:c.929-6_929-3delCCGC
  • NM_001953.4:c.929-6_929-3del
  • NM_001953.4:c.929-6_929-3delCCGC
  • NM_001953.5:c.929-6_929-3delCCGCMANE SELECT
  • c.929-3_929-6delCCGC
Links:
dbSNP: rs201685922
NCBI 1000 Genomes Browser:
rs201685922
Molecular consequence:
  • NM_001113755.3:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001113756.3:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257988.1:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257989.1:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001953.5:c.929-6_929-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Fatal Infantile Cardioencephalomyopathy
Identifiers:
MedGen: CN239235

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000484004Illumina Laboratory Services, Illumina
criteria provided, single submitter

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

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, SCV000484004.2

#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: Nov 30, 2024