NM_000202.8(IDS):c.1007-2A>C AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 1, 2019
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:: RCV001572470.3

Allele description [Variation Report for NM_000202.8(IDS):c.1007-2A>C]

NM_000202.8(IDS):c.1007-2A>C

Genes:

LOC106050102:IDS recombination region [Gene]
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000202.8(IDS):c.1007-2A>C

HGVS:

NC_000023.11:g.149487100T>G
NG_011900.3:g.23235A>C
NG_042264.2:g.456T>G
NM_000202.8:c.1007-2A>CMANE SELECT
NM_001166550.4:c.737-2A>C
NC_000023.10:g.148568631T>G

Links:

dbSNP: rs2124006451

NCBI 1000 Genomes Browser:

rs2124006451

Molecular consequence:

NM_000202.8:c.1007-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001166550.4:c.737-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Rattus norvegicus T-box transcription factor 21 (Tbx21), mRNA
Rattus norvegicus T-box transcription factor 21 (Tbx21), mRNA
gi|157824179|ref|NM_001107043.1|

Nucleotide
peroxisomal ATPase PEX1 isoform X1 [Homo sapiens]
peroxisomal ATPase PEX1 isoform X1 [Homo sapiens]
gi|2462614767|ref|XP_054214375.1|

Protein
Taxonomy Links for Nucleotide (Select 27552844) (1)
Taxonomy
Related DataSets for GEO Profiles (Select 65206245) (1)
GEO DataSets
Night and day effects on pineal gland (Expt. B)
Night and day effects on pineal gland (Expt. B)
Accession: GDS3700

GEO DataSets

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001797117	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Nov 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001797117

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Nov 1, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001797117.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22976768)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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