NM_001605.3(AARS1):c.673G>C (p.Glu225Gln) AND Trichothiodystrophy 8, nonphotosensitive

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 26, 2024
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:: RCV003990408.2

Allele description [Variation Report for NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)]

NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)

Gene:

AARS1:alanyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)

HGVS:

NC_000016.10:g.70270339C>G
NG_023191.1:g.24171G>C
NM_001605.3:c.673G>CMANE SELECT
NP_001596.2:p.Glu225Gln
NP_001596.2:p.Glu225Gln
LRG_359t1:c.673G>C
LRG_359:g.24171G>C
LRG_359p1:p.Glu225Gln
NC_000016.9:g.70304242C>G
NM_001605.2:c.673G>C

Protein change:

E225Q

Molecular consequence:

NM_001605.3:c.673G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Trichothiodystrophy 8, nonphotosensitive
Identifiers:: MONDO: MONDO:0030517; MedGen: C5562057; OMIM: 619691

Recent activity

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Mus musculus microRNA 138-2 (Mir138-2), microRNA
Mus musculus microRNA 138-2 (Mir138-2), microRNA
gi|262205939|ref|NR_029552.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004807009	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 26, 2024)	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

SCV004807009

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 26, 2024)

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	unknown	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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004807009.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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