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NM_001673.5(ASNS):c.1279T>C (p.Ser427Pro) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 21, 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:
RCV000412830.1

Allele description [Variation Report for NM_001673.5(ASNS):c.1279T>C (p.Ser427Pro)]

NM_001673.5(ASNS):c.1279T>C (p.Ser427Pro)

Genes:
CZ1P-ASNS:CZ1P-ASNS readthrough [Gene]
ASNS:asparagine synthetase (glutamine-hydrolyzing) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_001673.5(ASNS):c.1279T>C (p.Ser427Pro)
HGVS:
  • NC_000007.14:g.97853346A>G
  • NG_033870.2:g.80217T>C
  • NM_001178075.2:c.1216T>C
  • NM_001178076.2:c.1030T>C
  • NM_001178077.1:c.1030T>C
  • NM_001352496.2:c.1279T>C
  • NM_001673.5:c.1279T>CMANE SELECT
  • NM_133436.3:c.1279T>C
  • NM_183356.4:c.1279T>C
  • NP_001171546.1:p.Ser406Pro
  • NP_001171547.1:p.Ser344Pro
  • NP_001171548.1:p.Ser344Pro
  • NP_001339425.1:p.Ser427Pro
  • NP_001664.3:p.Ser427Pro
  • NP_597680.2:p.Ser427Pro
  • NP_899199.2:p.Ser427Pro
  • NC_000007.13:g.97482658A>G
  • NR_147989.1:n.2982T>C
Protein change:
S344P
Links:
dbSNP: rs1057518341
NCBI 1000 Genomes Browser:
rs1057518341
Molecular consequence:
  • NM_001178075.2:c.1216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178076.2:c.1030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178077.1:c.1030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352496.2:c.1279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001673.5:c.1279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133436.3:c.1279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183356.4:c.1279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147989.1:n.2982T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491892GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Nov 21, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000491892.1

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

Description

The S427P variant in the ASNS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server) The S427P variant is a non-conservative amino acid substitution that occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The S427P variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: Apr 23, 2022