NM_054012.4(ASS1):c.805G>A (p.Val269Met) AND Citrullinemia type I

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Apr 13, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000174211.7

Allele description [Variation Report for NM_054012.4(ASS1):c.805G>A (p.Val269Met)]

NM_054012.4(ASS1):c.805G>A (p.Val269Met)

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.805G>A (p.Val269Met)
HGVS:
  • NC_000009.12:g.130480416G>A
  • NG_011542.1:g.40710G>A
  • NM_000050.4:c.805G>A
  • NM_054012.4:c.805G>AMANE SELECT
  • NP_000041.2:p.Val269Met
  • NP_446464.1:p.Val269Met
  • NC_000009.11:g.133355803G>A
  • P00966:p.Val269Met
Protein change:
V269M
Links:
UniProtKB: P00966#VAR_015901; dbSNP: rs370595480
NCBI 1000 Genomes Browser:
rs370595480
Molecular consequence:
  • NM_000050.4:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054012.4:c.805G>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
SCV000593462Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely pathogenic
(Apr 13, 2017)
germlineclinical testing

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

SCV000800723Counsylno assertion criteria providedUncertain significance
(Apr 18, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001163590Baylor Geneticscriteria provided, single submitter
Pathogenicgermlineclinical 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 providedclinical testing

Citations

PubMed

Neonatal screening for citrullinaemia.

Sander J, Janzen N, Sander S, Steuerwald U, Das AM, Scholl S, Trefz FK, Koch HG, Häberle J, Korall H, Marquardt I, Korenke C.

Eur J Pediatr. 2003 Jun;162(6):417-20. Epub 2003 Apr 8.

PubMed [citation]
PMID:
12684898

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, et al.

Hum Mutat. 2003 Jul;22(1):24-34.

PubMed [citation]
PMID:
12815590
See all PubMed Citations (3)

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000593462.1

#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 Counsyl, SCV000800723.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV001163590.1

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

Last Updated: Aug 27, 2021

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