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NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Jun 4, 2024
Review status:
no classifications from unflagged records
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:
RCV000079033.16

Allele description [Variation Report for NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)]

NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)

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.245C>T (p.Ser82Leu)
HGVS:
  • NC_000016.10:g.88841971G>A
  • NG_008667.1:g.19996C>T
  • NM_000512.5:c.245C>TMANE SELECT
  • NM_001323543.2:c.-311C>T
  • NM_001323544.2:c.263C>T
  • NP_000503.1:p.Ser82Leu
  • NP_000503.1:p.Ser82Leu
  • NP_000503.1:p.Ser82Leu
  • NP_001310473.1:p.Ser88Leu
  • NC_000016.9:g.88908379G>A
  • NM_000512.4:c.245C>T
  • NM_001323544.2:c.263C>T
Protein change:
S82L
Links:
dbSNP: rs371429653
NCBI 1000 Genomes Browser:
rs371429653
Molecular consequence:
  • NM_001323543.2:c.-311C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000512.5:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323544.2:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

No clinical assertions found. See "Flagged submissions" below.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Dũng VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):129-38. doi: 10.1016/j.ymgme.2013.06.008. Epub 2013 Jun 26.

PubMed [citation]
PMID:
23876334
PMCID:
PMC3779837

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110902.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110902Eurofins Ntd Llc (ga)
flagged submission
Reason: Older and outlier claim with insufficient supporting evidence
Notes: None

(EGL Classification Definitions 2015)
Uncertain significance
(Jan 5, 2015)
germlineclinical testing

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

Citation Link

Last Updated: Nov 30, 2024