NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) AND Citrullinemia type I

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Aug 7, 2018)

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:
RCV000006696.7

Allele description [Variation Report for NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)]

NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)

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.40G>A (p.Gly14Ser)
HGVS:
  • NC_000009.12:g.130452268G>A
  • NG_011542.1:g.12562G>A
  • NM_000050.4:c.40G>A
  • NM_054012.4:c.40G>AMANE SELECT
  • NP_000041.2:p.Gly14Ser
  • NP_446464.1:p.Gly14Ser
  • NC_000009.11:g.133327655G>A
  • P00966:p.Gly14Ser
Protein change:
G14S; GLY14SER
Links:
UniProtKB: P00966#VAR_000681; OMIM: 603470.0004; dbSNP: rs121908636
NCBI 1000 Genomes Browser:
rs121908636
Molecular consequence:
  • NM_000050.4:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054012.4:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000026887OMIMno 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.,

SCV000845427Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Likely pathogenic
(Aug 7, 2018)
inheritedclinical testing

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

SCV001163215Baylor Geneticscriteria provided, single submitter
Pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedinheritedno1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000026887.2

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

Description

Kobayashi et al. (1989) demonstrated a change in codon 14 of the ASS gene, GGC (gly) to AGC (ser), in a case of citrullinemia (215700).

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

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000845427.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednonot providednot providednot provided1not providednot providednot provided

From Baylor Genetics, SCV001163215.1

#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: Oct 8, 2021

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