NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) AND Citrullinemia type I

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jan 31, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000006699.11

Allele description [Variation Report for NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)]

NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)

Gene:
ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
HGVS:
  • NC_000009.12:g.130489464G>A
  • NG_011542.1:g.49758G>A
  • NM_000050.4:c.970G>A
  • NM_054012.4:c.970G>AMANE SELECT
  • NP_000041.2:p.Gly324Ser
  • NP_446464.1:p.Gly324Ser
  • NC_000009.11:g.133364851G>A
Protein change:
G324S; GLY324SER
Links:
OMIM: 603470.0007; dbSNP: rs121908639
NCBI 1000 Genomes Browser:
rs121908639
Molecular consequence:
  • NM_000050.4:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054012.4:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Citrullinemia type I (CTNL1)
Synonyms:
Classic citrullinemia; Citrullinuria; ASS deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008988; MedGen: C4721769; Orphanet: 247525; OMIM: 215700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026890OMIMno assertion criteria providedPathogenic
(Apr 4, 2013)
germlineliterature only

Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. Characterization of nine mutant alleles causing citrullinemia. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A201-only, 1989.,

SCV000220532Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 19, 2014)
unknownliterature only

PubMed (6)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV000593461Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely pathogenic
(Jan 17, 2016)
germlineclinical testing

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

SCV001163598Baylor Geneticscriteria provided, single submitter
Pathogenicgermlineclinical testing

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

SCV001368808Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jan 31, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

Kobayashi K, Jackson MJ, Tick DB, O'Brien WE, Beaudet AL.

J Biol Chem. 1990 Jul 5;265(19):11361-7.

PubMed [citation]
PMID:
2358466

Mutation analysis of Korean patients with citrullinemia.

Hong KM, Shin CH, Choi YB, Song WK, Lee SD, Rhee KI, Jang P, Pak GS, Kim JK, Paik MK, Hahn SH.

Mol Cells. 2000 Aug 31;10(4):465-8.

PubMed [citation]
PMID:
10987146
See all PubMed Citations (7)

Details of each submission

From OMIM, SCV000026890.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

Kobayashi et al. (1989) demonstrated change in codon 324 in the ASS gene, GGT (gly) to AGT (ser), in a case of citrullinemia (215700).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000220532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV000593461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV001163598.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001368808.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PM3,PP3,PP4.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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