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NM_001042432.2(CLN3):c.1028G>A (p.Arg343His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2016
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:
RCV000187017.2

Allele description [Variation Report for NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)]

NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)

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.1028G>A (p.Arg343His)
Other names:
p.R343H:CGT>CAT
HGVS:
  • NC_000016.10:g.28482133C>T
  • NG_008654.2:g.15170G>A
  • NM_000086.2:c.1028G>A
  • NM_001042432.2:c.1028G>AMANE SELECT
  • NM_001286104.2:c.956G>A
  • NM_001286105.2:c.728G>A
  • NM_001286109.2:c.794G>A
  • NM_001286110.2:c.866G>A
  • NP_000077.1:p.Arg343His
  • NP_001035897.1:p.Arg343His
  • NP_001035897.1:p.Arg343His
  • NP_001273033.1:p.Arg319His
  • NP_001273034.1:p.Arg243His
  • NP_001273038.1:p.Arg265His
  • NP_001273039.1:p.Arg289His
  • LRG_689t1:c.1028G>A
  • LRG_689t2:c.1028G>A
  • LRG_689:g.15170G>A
  • LRG_689p1:p.Arg343His
  • LRG_689p2:p.Arg343His
  • NC_000016.9:g.28493454C>T
  • NM_001042432.1:c.1028G>A
  • NM_001042432.2:c.1028G>A
Protein change:
R243H
Links:
dbSNP: rs771305783
NCBI 1000 Genomes Browser:
rs771305783
Molecular consequence:
  • NM_000086.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042432.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286104.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286105.2:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286109.2:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286110.2:c.866G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240590GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 9, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240590.13

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

Description

The R343H variant has been reported previously as a homozygous variant in an individual with acrocallosal syndrome; however, a homozygous KIF7 variant was also identified and was considered to be the cause of the disorder in this individual (Walsh et al., 2013). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved in mammals. However, the R343H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 29, 2024