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NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 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:
RCV002314698.9

Allele description [Variation Report for NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)]

NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)

Gene:
CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.1
Genomic location:
Preferred name:
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)
Other names:
p.S69L:TCG>TTG
HGVS:
  • NC_000016.10:g.28489306G>A
  • NG_008654.2:g.7997C>T
  • NM_000086.2:c.206C>T
  • NM_001042432.2:c.206C>TMANE SELECT
  • NM_001286104.2:c.206C>T
  • NM_001286105.2:c.-15C>T
  • NM_001286109.2:c.44C>T
  • NM_001286110.2:c.44C>T
  • NP_000077.1:p.Ser69Leu
  • NP_001035897.1:p.Ser69Leu
  • NP_001035897.1:p.Ser69Leu
  • NP_001273033.1:p.Ser69Leu
  • NP_001273038.1:p.Ser15Leu
  • NP_001273039.1:p.Ser15Leu
  • LRG_689t1:c.206C>T
  • LRG_689t2:c.206C>T
  • LRG_689:g.7997C>T
  • LRG_689p1:p.Ser69Leu
  • LRG_689p2:p.Ser69Leu
  • NC_000016.9:g.28500627G>A
  • NM_001042432.1:c.206C>T
  • NM_001042432.2:c.206C>T
  • p.Ser69Leu
Protein change:
S15L
Links:
dbSNP: rs769840061
NCBI 1000 Genomes Browser:
rs769840061
Molecular consequence:
  • NM_001286105.2:c.-15C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000086.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042432.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286104.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286109.2:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286110.2:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000848808Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 23, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000848808.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.S69L variant (also known as c.206C>T), located in coding exon 3 of the CLN3 gene, results from a C to T substitution at nucleotide position 206. The serine at codon 69 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024