NM_001605.3(AARS1):c.2207C>T (p.Ala736Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 27, 2015
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:: RCV000235234.1

Allele description [Variation Report for NM_001605.3(AARS1):c.2207C>T (p.Ala736Val)]

NM_001605.3(AARS1):c.2207C>T (p.Ala736Val)

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.2207C>T (p.Ala736Val)

HGVS:

NC_000016.10:g.70255807G>A
NG_023191.1:g.38703C>T
NM_001605.3:c.2207C>TMANE SELECT
NP_001596.2:p.Ala736Val
NP_001596.2:p.Ala736Val
LRG_359t1:c.2207C>T
LRG_359:g.38703C>T
LRG_359p1:p.Ala736Val
NC_000016.9:g.70289710G>A
NM_001605.2:c.2207C>T

Protein change:

A736V

Links:

dbSNP: rs879254073

NCBI 1000 Genomes Browser:

rs879254073

Molecular consequence:

NM_001605.3:c.2207C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000293370	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Oct 27, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293370

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Oct 27, 2015)

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, SCV000293370.9

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

Description

The A736V variant in the AARS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A736V variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A736V variant is a conservative amino acid substitution, which occurs at a position that is conserved across mammalian species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A736V as a variant of uncertain significance.

#	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: Apr 23, 2022

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