NM_025150.4(TARS2):c.-31_-28del AND not specified

Germline classification:: no classifications from unflagged records (1 submission)
Review status:: no classifications from unflagged records

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:: RCV000608996.12

Allele description [Variation Report for NM_025150.4(TARS2):c.-31_-28del]

NM_025150.4(TARS2):c.-31_-28del

Gene:

TARS2:threonyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_025150.4(TARS2):c.-31_-28del

HGVS:

NC_000001.11:g.150487420_150487423del
NG_034226.1:g.5057_5060del
NG_092116.1:g.277_280del
NC_000001.10:g.150459896_150459899del
NM_025150.4:c.-33_-30delTGTT

Links:

dbSNP: rs3840448

NCBI 1000 Genomes Browser:

rs3840448

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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No clinical assertions found. See "Flagged submissions" below.

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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, SCV000731128.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000731128	GeneDx	flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV000731128 appears to be redundant with SCV001841857. (GeneDx Variant Classification (06012015))	Benign (Jan 30, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000731128

GeneDx

flagged submission

Reason: This record appears to be redundant with a more recent record from the same submitter.

Notes: SCV000731128 appears to be redundant with SCV001841857.

(GeneDx Variant Classification (06012015))

Benign
(Jan 30, 2017)

germline

clinical testing

Citation Link

Last Updated: Apr 20, 2024

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