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NM_000531.6(OTC):c.621C>A (p.Ser207Arg) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 25, 2022
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:
RCV000083516.2

Allele description [Variation Report for NM_000531.6(OTC):c.621C>A (p.Ser207Arg)]

NM_000531.6(OTC):c.621C>A (p.Ser207Arg)

Gene:
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)
HGVS:
  • NC_000023.11:g.38403698C>A
  • NG_008471.1:g.56216C>A
  • NM_000531.6:c.621C>AMANE SELECT
  • NP_000522.3:p.Ser207Arg
  • LRG_846t1:c.621C>A
  • LRG_846:g.56216C>A
  • LRG_846p1:p.Ser207Arg
  • NC_000023.10:g.38262951C>A
  • NM_000531.5:c.621C>A
  • P00480:p.Ser207Arg
Protein change:
S207R
Links:
UniProtKB: P00480#VAR_004907; dbSNP: rs72558415
NCBI 1000 Genomes Browser:
rs72558415
Molecular consequence:
  • NM_000531.6:c.621C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115602GenMed Metabolism Lab
no assertion criteria provided
pathogenicunknownnot provided

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

SCV002756892GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(May 25, 2022)
germlineclinical testing

Citation Link

Description

p.Ser207Arg, Neonatal

SCV000115602

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.

Shimadzu M, Matsumoto H, Matsuura T, Kobayashi K, Komaki S, Kiwaki K, Hoshide R, Endo F, Saheki T, Matsuda I.

Hum Mutat. 1998;Suppl 1:S5-7. No abstract available.

PubMed [citation]
PMID:
9452024

Details of each submission

From GenMed Metabolism Lab, SCV000115602.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

From GeneDx, SCV002756892.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 9452024, 28324312)

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

Last Updated: Aug 4, 2024