NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766600.1

Allele description [Variation Report for NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu)]

NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu)

Gene:
EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu)
HGVS:
  • NC_000011.10:g.44126898C>T
  • NG_007560.1:g.36350C>T
  • NM_000401.3:c.1121C>T
  • NM_001178083.2:c.1022C>T
  • NM_207122.1:c.1022C>T
  • NP_000392.3:p.Pro374Leu
  • NP_001171554.1:p.Pro341Leu
  • NP_997005.1:p.Pro341Leu
  • LRG_494t1:c.1121C>T
  • LRG_494t2:c.1022C>T
  • LRG_494:g.36350C>T
  • LRG_494p1:p.Pro374Leu
  • LRG_494p2:p.Pro341Leu
  • NC_000011.9:g.44148448C>T
Protein change:
P341L
Links:
dbSNP: rs141035971
NCBI 1000 Genomes Browser:
rs141035971
Molecular consequence:
  • NM_000401.3:c.1121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178083.2:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_207122.1:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576979GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 13, 2017)
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, SCV000576979.4

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

Description

The P341L variant in the EXT2 gene has been reported previously as heterozygous in an individual with high myopia (Kloss et al., 2017). The P341L variant is observed in 6/10406 (0.06%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P341L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, a missense variant in the same residue (P341T) has been reported in an individual with multiple osteochondromas (Ishimaru et al., 2016). Therefore, we interpret P341L as a variant of uncertain significance.

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

Last Updated: Mar 7, 2021

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