NM_003680.4(YARS1):c.1330_1332del (p.Ser444del) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 18, 2022
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:: RCV002460730.2

Allele description [Variation Report for NM_003680.4(YARS1):c.1330_1332del (p.Ser444del)]

NM_003680.4(YARS1):c.1330_1332del (p.Ser444del)

Gene:

YARS1:tyrosyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p35.1

Genomic location:

Preferred name:

NM_003680.4(YARS1):c.1330_1332del (p.Ser444del)

HGVS:

NC_000001.11:g.32780089_32780091del
NG_008408.1:g.42944_42946del
NM_003680.4:c.1330_1332delMANE SELECT
NP_003671.1:p.Ser444del
NP_003671.1:p.Ser444del
LRG_273t1:c.1328_1330del
LRG_273:g.42944_42946del
LRG_273p1:p.Ser444del
NC_000001.10:g.33245690_33245692del
NM_003680.3:c.1328_1330delCTT
NM_003680.3:c.1330_1332delTCT

Protein change:

S444del

Molecular consequence:

NM_003680.4:c.1330_1332del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002756222	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002756222

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 18, 2022)

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, SCV002756222.2

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

Description

The c.1330_1332delTCT variant (also known as p.S444del) is located in coding exon 11 of the YARS gene. This variant results from an in-frame TCT deletion at nucleotide positions 1330 to 1332. This results in the in-frame deletion of a serine at codon 444. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, 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: May 1, 2024

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