NM_000048.4(ASL):c.332G>A (p.Arg111Gln) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 15, 2016
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:: RCV000493464.12

Allele description [Variation Report for NM_000048.4(ASL):c.332G>A (p.Arg111Gln)]

NM_000048.4(ASL):c.332G>A (p.Arg111Gln)

Gene:

ASL:argininosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

Preferred name:

NM_000048.4(ASL):c.332G>A (p.Arg111Gln)

HGVS:

NC_000007.14:g.66082920G>A
NG_009288.1:g.12132G>A
NM_000048.4:c.332G>AMANE SELECT
NM_001024943.2:c.332G>A
NM_001024944.2:c.332G>A
NM_001024946.2:c.332G>A
NP_000039.2:p.Arg111Gln
NP_001020114.1:p.Arg111Gln
NP_001020115.1:p.Arg111Gln
NP_001020117.1:p.Arg111Gln
NC_000007.13:g.65547907G>A
NM_000048.3:c.332G>A
NM_001024943.1:c.332G>A

Protein change:

R111Q

Links:

dbSNP: rs561367199

NCBI 1000 Genomes Browser:

rs561367199

Molecular consequence:

NM_000048.4:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001024943.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001024944.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001024946.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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mitochondrial carnitine/acylcarnitine carrier protein [Cavia porcellus]
mitochondrial carnitine/acylcarnitine carrier protein [Cavia porcellus]
gi|348581874|ref|XP_003476702.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000582822	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Apr 15, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000582822

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Apr 15, 2016)

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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000342981.4

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

#	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		1	not provided	not provided	not provided

From GeneDx, SCV000582822.4

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

Description

The R111Q variant has been published in a patient with argininosuccinic aciduria who was homozygous for R111Q and who was diagnosed following an abnormal newborn screening result (Al-Shamsi et al. 2014). The R111Q variant was not observed with any significant frequency in either the 1000 Genomes Project Consortium or in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R111Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

#	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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000342981	Eurofins Ntd Llc (ga)	flagged submission Reason: Older claim that does not account for recent evidence Notes: None (EGL Classification Definitions 2015)	Uncertain significance (Jun 30, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000342981

Eurofins Ntd Llc (ga)

flagged submission

Reason: Older claim that does not account for recent evidence

Notes: None

(EGL Classification Definitions 2015)

Uncertain significance
(Jun 30, 2016)

germline

clinical testing

Citation Link

Last Updated: Oct 13, 2024

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