NM_002161.6(IARS1):c.3544A>G (p.Lys1182Glu) AND Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 10, 2021
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:: RCV001702321.2

Allele description [Variation Report for NM_002161.6(IARS1):c.3544A>G (p.Lys1182Glu)]

NM_002161.6(IARS1):c.3544A>G (p.Lys1182Glu)

Gene:

IARS1:isoleucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

Preferred name:

NM_002161.6(IARS1):c.3544A>G (p.Lys1182Glu)

HGVS:

NC_000009.12:g.92223355T>C
NG_051498.1:g.75402A>G
NM_001374299.1:c.3469A>G
NM_001374300.1:c.3469A>G
NM_001374301.1:c.3460A>G
NM_001378569.1:c.3607A>G
NM_001378571.1:c.3565A>G
NM_001378572.1:c.3565A>G
NM_001378573.1:c.3544A>G
NM_001378574.1:c.3544A>G
NM_001378575.1:c.3544A>G
NM_001378576.1:c.3544A>G
NM_001378577.1:c.3502A>G
NM_001378578.1:c.3484A>G
NM_001378579.1:c.3484A>G
NM_001378580.1:c.3484A>G
NM_001378582.1:c.3448A>G
NM_001378583.1:c.3421A>G
NM_001378584.1:c.3409A>G
NM_001378585.1:c.3410-683A>G
NM_001378586.1:c.3544A>G
NM_002161.6:c.3544A>GMANE SELECT
NM_013417.4:c.3544A>G
NP_001361228.1:p.Lys1157Glu
NP_001361229.1:p.Lys1157Glu
NP_001361230.1:p.Lys1154Glu
NP_001365498.1:p.Lys1203Glu
NP_001365500.1:p.Lys1189Glu
NP_001365501.1:p.Lys1189Glu
NP_001365502.1:p.Lys1182Glu
NP_001365503.1:p.Lys1182Glu
NP_001365504.1:p.Lys1182Glu
NP_001365505.1:p.Lys1182Glu
NP_001365506.1:p.Lys1168Glu
NP_001365507.1:p.Lys1162Glu
NP_001365508.1:p.Lys1162Glu
NP_001365509.1:p.Lys1162Glu
NP_001365511.1:p.Lys1150Glu
NP_001365512.1:p.Lys1141Glu
NP_001365513.1:p.Lys1137Glu
NP_001365515.1:p.Lys1182Glu
NP_002152.2:p.Lys1182Glu
NP_038203.2:p.Lys1182Glu
NC_000009.11:g.94985637T>C
NM_002161.5:c.3544A>G
NR_073446.2:n.3481A>G

Protein change:

K1137E

Links:

dbSNP: rs556155

NCBI 1000 Genomes Browser:

rs556155

Molecular consequence:

NM_001378585.1:c.3410-683A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374299.1:c.3469A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374300.1:c.3469A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374301.1:c.3460A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378569.1:c.3607A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378571.1:c.3565A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378572.1:c.3565A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378573.1:c.3544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378574.1:c.3544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378575.1:c.3544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378576.1:c.3544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378577.1:c.3502A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378578.1:c.3484A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378579.1:c.3484A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378580.1:c.3484A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378582.1:c.3448A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378583.1:c.3421A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378584.1:c.3409A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378586.1:c.3544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002161.6:c.3544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_013417.4:c.3544A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_073446.2:n.3481A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (GRIDHH)
Synonyms:: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
Identifiers:: MONDO: MONDO:0014911; MedGen: C4310720; OMIM: 617093

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001933251	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001933251

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Aug 10, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001933251.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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