NM_022445.4(TPK1):c.-16-8del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 10, 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:: RCV001716665.2

Allele description [Variation Report for NM_022445.4(TPK1):c.-16-8del]

NM_022445.4(TPK1):c.-16-8del

Gene:

TPK1:thiamin pyrophosphokinase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q35

Genomic location:

Preferred name:

NM_022445.4(TPK1):c.-16-8del

HGVS:

NC_000007.14:g.144835637del
NG_032112.2:g.5428del
NM_001042482.2:c.-16-8del
NM_001350879.1:c.-16-8del
NM_001350880.1:c.-16-8del
NM_001350881.1:c.-16-8del
NM_001350882.1:c.-152-8del
NM_001350883.1:c.-94+341del
NM_001350885.1:c.-206+341del
NM_001350886.1:c.-354+341del
NM_001350887.1:c.-203+341del
NM_001350889.1:c.-133+341del
NM_001350893.1:c.-264-8del
NM_001350894.1:c.-261-8del
NM_001350895.1:c.-489-8del
NM_022445.4:c.-16-8delMANE SELECT
NC_000007.13:g.144532730del

Links:

dbSNP: rs200964758

NCBI 1000 Genomes Browser:

rs200964758

Molecular consequence:

NM_001042482.2:c.-16-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350879.1:c.-16-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350880.1:c.-16-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350881.1:c.-16-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350882.1:c.-152-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350883.1:c.-94+341del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350885.1:c.-206+341del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350886.1:c.-354+341del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350887.1:c.-203+341del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350889.1:c.-133+341del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350893.1:c.-264-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350894.1:c.-261-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001350895.1:c.-489-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_022445.4:c.-16-8del - 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
SCV001941515	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 10, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001941515

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 10, 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, SCV001941515.2

#	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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