NM_018128.5(TSR1):c.2380A>G (p.Ile794Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 2023
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:: RCV004476747.1

Allele description [Variation Report for NM_018128.5(TSR1):c.2380A>G (p.Ile794Val)]

NM_018128.5(TSR1):c.2380A>G (p.Ile794Val)

Genes:

TSR1:TSR1 ribosome maturation factor [Gene - OMIM - HGNC]
SRR:serine racemase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.3

Genomic location:

Preferred name:

NM_018128.5(TSR1):c.2380A>G (p.Ile794Val)

HGVS:

NC_000017.11:g.2324231T>C
NM_001304803.1:c.*358T>C
NM_018128.5:c.2380A>GMANE SELECT
NM_021947.3:c.*358T>CMANE SELECT
NP_060598.3:p.Ile794Val
NC_000017.10:g.2227525T>C
NM_018128.4:c.2380A>G

Protein change:

I794V

Molecular consequence:

NM_001304803.1:c.*358T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_021947.3:c.*358T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_018128.5:c.2380A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

cytochrome oxidase subunit I, partial (mitochondrion) [Cyclophorus formosaensis]
cytochrome oxidase subunit I, partial (mitochondrion) [Cyclophorus formosaensis]
gi|167077180|gb|ABZ10848.1|

Protein
bcl-2-like protein 1 isoform 1 [Rattus norvegicus]
bcl-2-like protein 1 isoform 1 [Rattus norvegicus]
gi|75992934|ref|NP_113723.2|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004973271	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 19, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004973271

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 19, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004973271.1

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

Description

The c.2380A>G (p.I794V) alteration is located in exon 15 (coding exon 15) of the TSR1 gene. This alteration results from a A to G substitution at nucleotide position 2380, causing the isoleucine (I) at amino acid position 794 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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 1, 2024

ClinVar

Relating variation to medicine