NM_022124.5(CDH23):c.9903C>T (p.Pro3301=) AND Metachromatic leukodystrophy

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000324862.1

Allele description [Variation Report for NM_022124.5(CDH23):c.9903C>T (p.Pro3301=)]

NM_022124.5(CDH23):c.9903C>T (p.Pro3301=)

Genes:
PSAP:prosaposin [Gene - OMIM - HGNC]
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.5(CDH23):c.9903C>T (p.Pro3301=)
Other names:
p.P3301P:CCC>CCT
HGVS:
  • NC_000010.11:g.71815116C>T
  • NG_008835.1:g.423170C>T
  • NG_009301.1:g.41210G>A
  • NM_001171932.1:c.*197636C>T
  • NM_022124.5:c.9903C>T
  • NP_071407.4:p.Pro3301=
  • NC_000010.10:g.73574873C>T
  • c.9903C>T
  • p.Pro3301Pro
Links:
dbSNP: rs55717455
NCBI 1000 Genomes Browser:
rs55717455
Molecular consequence:
  • NM_022124.5:c.9903C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Metachromatic leukodystrophy (MLD)
Synonyms:
Arylsulfatase A Deficiency
Identifiers:
MedGen: C0023522; Orphanet: 512; OMIM: 250100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000483121Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000483121.2

#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: Jun 17, 2019

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