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NM_000047.3(ARSL):c.23G>C (p.Cys8Ser) AND X-linked chondrodysplasia punctata 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001824764.2

Allele description [Variation Report for NM_000047.3(ARSL):c.23G>C (p.Cys8Ser)]

NM_000047.3(ARSL):c.23G>C (p.Cys8Ser)

Gene:
ARSL:arylsulfatase L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.33
Genomic location:
Preferred name:
NM_000047.3(ARSL):c.23G>C (p.Cys8Ser)
HGVS:
  • NC_000023.11:g.2960378C>G
  • NG_007091.1:g.8893G>C
  • NM_000047.3:c.23G>CMANE SELECT
  • NM_001282628.2:c.-189G>C
  • NM_001282631.2:c.23G>C
  • NM_001369079.1:c.50G>C
  • NM_001369080.1:c.-189G>C
  • NP_000038.2:p.Cys8Ser
  • NP_000038.2:p.Cys8Ser
  • NP_001269560.2:p.Trp8Ser
  • NP_001356008.1:p.Cys17Ser
  • NC_000023.10:g.2878419C>G
  • NM_000047.2:c.23G>C
Protein change:
C17S
Links:
dbSNP: rs1057521599
NCBI 1000 Genomes Browser:
rs1057521599
Molecular consequence:
  • NM_001282628.2:c.-189G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001369080.1:c.-189G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000047.3:c.23G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282631.2:c.23G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369079.1:c.50G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
X-linked chondrodysplasia punctata 1 (CDPX1)
Synonyms:
CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC; Chondrodysplasia punctata 1, X-linked recessive; Arylsulfatase E deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010555; MedGen: C3669395; OMIM: 302950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075253GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002075253.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant classified as Uncertain significance and reported on 03-13-2016 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Jan 13, 2025