U.S. flag

An official website of the United States government

NM_002764.4(PRPS1):c.*938dup AND Arts syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV000408417.13

Allele description [Variation Report for NM_002764.4(PRPS1):c.*938dup]

NM_002764.4(PRPS1):c.*938dup

Gene:
PRPS1:phosphoribosyl pyrophosphate synthetase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_002764.4(PRPS1):c.*938dup
HGVS:
  • NC_000023.11:g.107650970dup
  • NG_008407.1:g.27547dup
  • NM_001204402.2:c.*938dup
  • NM_002764.4:c.*938dupMANE SELECT
  • LRG_264:g.27547dup
  • NC_000023.10:g.106894200dup
  • NM_002764.3:c.*938dupA
Links:
dbSNP: rs1057515728
NCBI 1000 Genomes Browser:
rs1057515728
Molecular consequence:
  • NM_001204402.2:c.*938dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_002764.4:c.*938dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Arts syndrome (ARTS)
Synonyms:
X-linked fatal ataxia with deafness and loss of vision; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010533; MedGen: C0796028; Orphanet: 1187; OMIM: 301835

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
SCV000481471Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000481471.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024