NM_031206.7(LAS1L):c.377T>C (p.Ile126Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 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:: RCV004771336.1

Allele description [Variation Report for NM_031206.7(LAS1L):c.377T>C (p.Ile126Thr)]

NM_031206.7(LAS1L):c.377T>C (p.Ile126Thr)

Gene:

LAS1L:LAS1 like ribosome biogenesis factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_031206.7(LAS1L):c.377T>C (p.Ile126Thr)

HGVS:

NC_000023.11:g.65532616A>G
NG_016369.1:g.7191T>C
NM_001170649.2:c.377T>C
NM_001170650.2:c.251T>C
NM_001375328.1:c.377T>C
NM_001375329.1:c.377T>C
NM_001375330.1:c.377T>C
NM_001375331.1:c.377T>C
NM_001375332.1:c.-420T>C
NM_001375333.1:c.377T>C
NM_001375334.1:c.377T>C
NM_001375335.1:c.377T>C
NM_001375336.1:c.377T>C
NM_001375337.1:c.377T>C
NM_001410733.1:c.377T>C
NM_031206.7:c.377T>CMANE SELECT
NP_001164120.1:p.Ile126Thr
NP_001164121.1:p.Ile84Thr
NP_001362257.1:p.Ile126Thr
NP_001362258.1:p.Ile126Thr
NP_001362259.1:p.Ile126Thr
NP_001362260.1:p.Ile126Thr
NP_001362262.1:p.Ile126Thr
NP_001362263.1:p.Ile126Thr
NP_001362264.1:p.Ile126Thr
NP_001362265.1:p.Ile126Thr
NP_001362266.1:p.Ile126Thr
NP_001397662.1:p.Ile126Thr
NP_112483.1:p.Ile126Thr
NC_000023.10:g.64752496A>G
NM_031206.4:c.377T>C
NR_164681.1:n.449T>C

Protein change:

I126T

Molecular consequence:

NM_001375332.1:c.-420T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001170649.2:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001170650.2:c.251T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375328.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375329.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375330.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375331.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375333.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375334.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375335.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375336.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375337.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001410733.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_031206.7:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_164681.1:n.449T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005376573	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005376573

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 17, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV005376573.1

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

Description

De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD)

#	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: Oct 26, 2024

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