NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 10, 2013
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:: RCV000186699.1

Allele description [Variation Report for NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg)]

NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg)

Gene:

ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg)

Other names:

p.C483R:TGT>CGT

HGVS:

NC_000022.11:g.40366514T>C
NG_007993.2:g.25015T>C
NM_000026.4:c.1447T>CMANE SELECT
NM_001123378.3:c.1270T>C
NM_001317923.2:c.1255T>C
NM_001363840.3:c.1431+16T>C
NP_000017.1:p.Cys483Arg
NP_001116850.1:p.Cys424Arg
NP_001304852.1:p.Cys419Arg
NC_000022.10:g.40762518T>C
NM_000026.2:c.1447T>C
NR_134256.2:n.1537T>C

Protein change:

C419R

Links:

dbSNP: rs767124073

NCBI 1000 Genomes Browser:

rs767124073

Molecular consequence:

NM_001363840.3:c.1431+16T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000026.4:c.1447T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001123378.3:c.1270T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001317923.2:c.1255T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_134256.2:n.1537T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Gm9875 predicted gene 9875 [Mus musculus]
Gm9875 predicted gene 9875 [Mus musculus]
Gene ID:105244085

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000240265	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 10, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240265

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 10, 2013)

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, SCV000240265.10

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

Description

p.Cys483Arg (TGT>CGT): c.1447 T>C in exon 13 of the ADSL gene (NM_000026.2) The Cys483Arg missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or among the various ethnic groups studied in the 1000 Genomes Project, indicating it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as an uncharged Cysteine residue is replaced by a positively charged Arginine residue, and the loss of a Cysteine may alter disulfide bond formation in the protein. However, it alters a poorly conserved position in the protein. One in silico algorithm predicts it may be damaging to protein structure/function while others suggest it may be benign. Therefore, based on the currently available information, it is unclear whether Cys483Arg is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

#	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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