NM_054012.4(ASS1):c.892del (p.Glu298fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002225489.10

Allele description

NM_054012.4(ASS1):c.892del (p.Glu298fs)

Gene:
ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_054012.4(ASS1):c.892del (p.Glu298fs)
HGVS:
  • NC_000009.12:g.130489386del
  • NG_011542.1:g.49680del
  • NM_000050.4:c.892del
  • NM_054012.4:c.892delMANE SELECT
  • NP_000041.2:p.Glu298fs
  • NP_446464.1:p.Glu298fs
  • NC_000009.11:g.133364773del
  • NC_000009.11:g.133364773delG
  • NM_000050.4:c.892delG
  • NM_054012.3:c.892delG
Protein change:
E298fs
Links:
dbSNP: rs770362721
NCBI 1000 Genomes Browser:
rs770362721
Molecular consequence:
  • NM_000050.4:c.892del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_054012.4:c.892del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV002504156GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 7, 2022) 		germlineclinical testing

Citation Link,

SCV004010876CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Apr 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002504156.2

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate the variant results in reduced enzyme activity (Zielonka et al., 2019); This variant is associated with the following publications: (PMID: 24508627, 31469252, 15863597, 12815590, 19006241, 25433810)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004010876.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ASS1: PVS1, PM2, PM3, PP4:Moderate

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

Last Updated: Jun 23, 2024