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NM_020117.11(LARS1):c.3289A>G (p.Ile1097Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 30, 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:
RCV004039345.1

Allele description [Variation Report for NM_020117.11(LARS1):c.3289A>G (p.Ile1097Val)]

NM_020117.11(LARS1):c.3289A>G (p.Ile1097Val)

Gene:
LARS1:leucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_020117.11(LARS1):c.3289A>G (p.Ile1097Val)
HGVS:
  • NC_000005.10:g.146120407T>C
  • NG_042294.1:g.67325A>G
  • NM_001317964.2:c.3151A>G
  • NM_001317965.2:c.3127A>G
  • NM_016460.4:c.3208A>G
  • NM_020117.11:c.3289A>GMANE SELECT
  • NP_001304893.1:p.Ile1051Val
  • NP_001304894.1:p.Ile1043Val
  • NP_057544.2:p.Ile1070Val
  • NP_064502.9:p.Ile1097Val
  • NC_000005.9:g.145499970T>C
  • NM_020117.9:c.3289A>G
Protein change:
I1043V
Links:
dbSNP: rs745902477
NCBI 1000 Genomes Browser:
rs745902477
Molecular consequence:
  • NM_001317964.2:c.3151A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317965.2:c.3127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016460.4:c.3208A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020117.11:c.3289A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004894351Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 30, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004894351.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3289A>G (p.I1097V) alteration is located in exon 31 (coding exon 31) of the LARS gene. This alteration results from a A to G substitution at nucleotide position 3289, causing the isoleucine (I) at amino acid position 1097 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024