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NM_001042432.2(CLN3):c.992_993del (p.Phe331fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 2020
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:
RCV002384553.2

Allele description [Variation Report for NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)]

NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)

Gene:
CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p12.1
Genomic location:
Preferred name:
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
HGVS:
  • NC_000016.10:g.28482169_28482170del
  • NG_008654.2:g.15134_15135del
  • NM_000086.2:c.992_993del
  • NM_001042432.2:c.992_993delMANE SELECT
  • NM_001286104.2:c.920_921del
  • NM_001286105.2:c.692_693del
  • NM_001286109.2:c.758_759del
  • NM_001286110.2:c.830_831del
  • NP_000077.1:p.Phe331fs
  • NP_001035897.1:p.Phe331fs
  • NP_001273033.1:p.Phe307fs
  • NP_001273034.1:p.Phe231fs
  • NP_001273038.1:p.Phe253fs
  • NP_001273039.1:p.Phe277fs
  • LRG_689t1:c.992_993del
  • LRG_689t2:c.992_993del
  • LRG_689:g.15134_15135del
  • LRG_689p1:p.Phe331fs
  • NC_000016.9:g.28493489_28493490del
  • NC_000016.9:g.28493490_28493491del
  • NM_001042432.1:c.992_993delTT
Protein change:
F231fs
Links:
dbSNP: rs2046109345
NCBI 1000 Genomes Browser:
rs2046109345
Molecular consequence:
  • NM_000086.2:c.992_993del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042432.2:c.992_993del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286104.2:c.920_921del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286105.2:c.692_693del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286109.2:c.758_759del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286110.2:c.830_831del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002694349Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 24, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002694349.2

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

Description

The c.992_993delTT pathogenic mutation, located in coding exon 13 of the CLN3 gene, results from a deletion of two nucleotides at nucleotide positions 992 to 993, causing a translational frameshift with a predicted alternate stop codon (p.F331Cfs*50). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024