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NM_006493.4(CLN5):c.-8G>A AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 2024
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:
RCV004609629.1

Allele description [Variation Report for NM_006493.4(CLN5):c.-8G>A]

NM_006493.4(CLN5):c.-8G>A

Gene:
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q22.3
Genomic location:
Preferred name:
NM_006493.4(CLN5):c.-8G>A
HGVS:
  • NC_000013.11:g.76992091G>A
  • NG_009064.1:g.5168G>A
  • NM_001366624.2:c.-8G>A
  • NM_006493.4:c.-8G>AMANE SELECT
  • LRG_692t1:c.140G>A
  • LRG_692:g.5168G>A
  • NC_000013.10:g.77566226G>A
  • NM_006493.2:c.140G>A
Links:
dbSNP: rs761576461
NCBI 1000 Genomes Browser:
rs761576461
Molecular consequence:
  • NM_001366624.2:c.-8G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_006493.4:c.-8G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV005108029Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 5, 2024) 		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, SCV005108029.1

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

Description

The c.140G>A (p.C47Y) alteration is located in exon 1 (coding exon 1) of the CLN5 gene. This alteration results from a G to A substitution at nucleotide position 140, causing the cysteine (C) at amino acid position 47 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024