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NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3]) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 4, 2013
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:
RCV000187049.1

Allele description [Variation Report for NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])]

NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])

Genes:
LOC130009913:ATAC-STARR-seq lymphoblastoid silent region 5414 [Gene]
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q22.3
Genomic location:
Preferred name:
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])
HGVS:
  • NC_000013.11:g.76992145GCGCGG[3]
  • NG_009064.1:g.5222GCGCGG[3]
  • NM_001366624.2:c.47GCGCGG[3]
  • NM_006493.4:c.47GCGCGG[3]MANE SELECT
  • NP_001353553.1:p.16GA[3]
  • NP_006484.2:p.16GA[3]
  • LRG_692t1:c.200_205dup
  • LRG_692:g.5222GCGCGG[3]
  • NC_000013.10:g.77566277_77566278insGGGCGC
  • NC_000013.10:g.77566280GCGCGG[3]
  • NM_006493.2:c.200_205dup
  • p.G67_A68dup
Links:
dbSNP: rs1409904698
NCBI 1000 Genomes Browser:
rs1409904698
Molecular consequence:
  • NM_001366624.2:c.47GCGCGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_006493.4:c.47GCGCGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000240622GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Likely benign
(Dec 4, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240622.3

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

Description

The variant is found in INFANT-EPI panel(s).

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

Last Updated: Sep 29, 2024