NM_022042.4(SLC26A1):c.1754del (p.Gly585fs) AND Hurler syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 23, 2017
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:: RCV000667340.1

Allele description [Variation Report for NM_022042.4(SLC26A1):c.1754del (p.Gly585fs)]

NM_022042.4(SLC26A1):c.1754del (p.Gly585fs)

Genes:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_022042.4(SLC26A1):c.1754del (p.Gly585fs)

HGVS:

NC_000004.12:g.989187del
NG_008103.1:g.7191del
NG_033042.1:g.9252del
NM_000203.5:c.299+1238delMANE SELECT
NM_022042.4:c.1754delMANE SELECT
NM_134425.4:c.576+1943del
NM_213613.4:c.1754del
NP_071325.2:p.Gly585fs
NP_998778.1:p.Gly585fs
LRG_1277t1:c.299+1238del
LRG_1277:g.7191del
NC_000004.11:g.982975del
NM_000203.3:c.299+1238delC

Protein change:

G585fs

Links:

dbSNP: rs1553915192

NCBI 1000 Genomes Browser:

rs1553915192

Molecular consequence:

NM_022042.4:c.1754del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_213613.4:c.1754del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000203.5:c.299+1238del - intron variant - [Sequence Ontology: SO:0001627]
NM_134425.4:c.576+1943del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hurler syndrome
Synonyms:: MUCOPOLYSACCHARIDOSIS TYPE IH; Gargoylism, Hurler Syndrome
Identifiers:: MONDO: MONDO:0011758; MedGen: C0086795; OMIM: 607014; Human Phenotype Ontology: HP:0000943

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000791773	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely benign (May 23, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791773

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely benign
(May 23, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791773.2

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

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

Last Updated: Oct 7, 2023

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