NM_000512.5(GALNS):c.1365-1G>C AND Mucopolysaccharidosis, MPS-IV-A

Clinical significance:Pathogenic (Last evaluated: Dec 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001332505.1

Allele description [Variation Report for NM_000512.5(GALNS):c.1365-1G>C]

NM_000512.5(GALNS):c.1365-1G>C

Gene:
GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000512.5(GALNS):c.1365-1G>C
HGVS:
  • NC_000016.10:g.88818125C>G
  • NG_008667.1:g.43842G>C
  • NM_000512.5:c.1365-1G>CMANE SELECT
  • NM_001323543.2:c.810-1G>C
  • NM_001323544.2:c.1383-1G>C
  • NC_000016.9:g.88884533C>G
  • NM_000512.4:c.1365-1G>C
Molecular consequence:
  • NM_000512.5:c.1365-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001323543.2:c.810-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001323544.2:c.1383-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-IV-A (MPS4A)
Synonyms:
MPS IVA; Morquio syndrome A; MPS 4A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009659; MedGen: C0086651; Orphanet: 309297; Orphanet: 582; OMIM: 253000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001524852Baylor Geneticscriteria provided, single submitter
Pathogenic
(Dec 12, 2019)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001524852.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Mar 28, 2021

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