NM_000487.6(ARSA):c.1210+1G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000723835.3

Allele description [Variation Report for NM_000487.6(ARSA):c.1210+1G>A]

NM_000487.6(ARSA):c.1210+1G>A

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.1210+1G>A
HGVS:
  • NC_000022.11:g.50625578C>T
  • NG_009260.2:g.7602G>A
  • NM_000487.6:c.1210+1G>AMANE SELECT
  • NM_001085425.3:c.1210+1G>A
  • NM_001085426.3:c.1210+1G>A
  • NM_001085427.3:c.1210+1G>A
  • NM_001085428.3:c.952+1G>A
  • NM_001362782.2:c.952+1G>A
  • NC_000022.10:g.51064006C>T
  • NM_000487.4:c.1204+1G>A
  • NM_000487.5:c.1210+1G>A
Nucleotide change:
IVS7DS, G-A, +1
Links:
OMIM: 607574.0009; dbSNP: rs80338820
NCBI 1000 Genomes Browser:
rs80338820
Molecular consequence:
  • NM_000487.6:c.1210+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001085425.3:c.1210+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001085426.3:c.1210+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001085427.3:c.1210+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001085428.3:c.952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001362782.2:c.952+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232062EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jun 13, 2014)
germlineclinical testing

Citation Link,

SCV001143056Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Mar 14, 2019)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV001962458CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Aug 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

Fluharty AL, Fluharty CB, Bohne W, von Figura K, Gieselmann V.

Am J Hum Genet. 1991 Dec;49(6):1340-50.

PubMed [citation]
PMID:
1684088
PMCID:
PMC1686463

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528
See all PubMed Citations (6)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232062.5

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

From Athena Diagnostics Inc, SCV001143056.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient and found in general population data that is consistent with pathogenicity. Predicted to negatively affect a known splice site.

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001962458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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