NM_001953.5(TYMP):c.517-54_517-52del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 13, 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:: RCV001534936.2

Allele description [Variation Report for NM_001953.5(TYMP):c.517-54_517-52del]

NM_001953.5(TYMP):c.517-54_517-52del

Gene:

TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_001953.5(TYMP):c.517-54_517-52del

HGVS:

NC_000022.11:g.50527789_50527791del
NG_011860.1:g.7315_7317del
NG_016235.1:g.3669_3671del
NM_001113755.3:c.517-54_517-52del
NM_001113756.3:c.517-54_517-52del
NM_001257988.1:c.517-54_517-52del
NM_001257989.1:c.517-54_517-52del
NM_001953.5:c.517-54_517-52delMANE SELECT
LRG_727t1:c.517-54_517-52del
LRG_727t2:c.517-54_517-52del
LRG_727:g.7315_7317del
NC_000022.10:g.50966218_50966220del

Links:

dbSNP: rs131803

NCBI 1000 Genomes Browser:

rs131803

Molecular consequence:

NM_001113755.3:c.517-54_517-52del - intron variant - [Sequence Ontology: SO:0001627]
NM_001113756.3:c.517-54_517-52del - intron variant - [Sequence Ontology: SO:0001627]
NM_001257988.1:c.517-54_517-52del - intron variant - [Sequence Ontology: SO:0001627]
NM_001257989.1:c.517-54_517-52del - intron variant - [Sequence Ontology: SO:0001627]
NM_001953.5:c.517-54_517-52del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001751906	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 13, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001751906

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 13, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001751906.1

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

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

Last Updated: Dec 24, 2023

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