U.S. flag

An official website of the United States government

NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 18, 2023
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:
RCV000185782.4

Allele description [Variation Report for NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)]

NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)

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.539G>A (p.Ser180Asn)
Other names:
p.S180N:AGC>AAC; NM_000050.4(ASS1):c.539G>A(p.Ser180Asn); NM_054012.3(ASS1):c.539G>A(p.Ser180Asn)
HGVS:
  • NC_000009.12:g.130470877G>A
  • NG_011542.1:g.31171G>A
  • NM_000050.4:c.539G>A
  • NM_054012.4:c.539G>AMANE SELECT
  • NP_000041.2:p.Ser180Asn
  • NP_446464.1:p.Ser180Asn
  • NC_000009.11:g.133346264G>A
  • NM_054012.3:c.539G>A
  • P00966:p.Ser180Asn
Protein change:
S180N; SER180ASN
Links:
UniProtKB: P00966#VAR_000686; OMIM: 603470.0006; dbSNP: rs121908638
NCBI 1000 Genomes Browser:
rs121908638
Molecular consequence:
  • NM_000050.4:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054012.4:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000238717GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 18, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238717.12

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

Description

Published functional studies found this variant is associated with significantly decreased enzyme activity and thermal stability (Diez-Fernandez C et al., 2016); Not observed at a 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: 18323623, 31469252, 27287393, 2358466)

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

Last Updated: Sep 8, 2024