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NM_133642.5(LARGE1):c.1452-225C>G AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 30, 2018
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:
RCV001540253.2

Allele description [Variation Report for NM_133642.5(LARGE1):c.1452-225C>G]

NM_133642.5(LARGE1):c.1452-225C>G

Gene:
LARGE1:LARGE xylosyl- and glucuronyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.3
Genomic location:
Preferred name:
NM_133642.5(LARGE1):c.1452-225C>G
HGVS:
  • NC_000022.11:g.33304732G>C
  • NG_009929.2:g.620697C>G
  • NM_001362949.2:c.1452-225C>G
  • NM_001362951.2:c.1452-225C>G
  • NM_001362953.2:c.1452-225C>G
  • NM_001378624.1:c.1452-225C>G
  • NM_001378625.1:c.1452-225C>G
  • NM_001378626.1:c.1452-225C>G
  • NM_001378627.1:c.1452-225C>G
  • NM_001378628.1:c.1452-225C>G
  • NM_001378629.1:c.1296-225C>G
  • NM_001378630.1:c.849-225C>G
  • NM_001378631.1:c.693-225C>G
  • NM_004737.7:c.1452-225C>G
  • NM_133642.5:c.1452-225C>GMANE SELECT
  • LRG_856t1:c.1452-225C>G
  • LRG_856t2:c.1452-225C>G
  • LRG_856:g.620697C>G
  • NC_000022.10:g.33700718G>C
Links:
dbSNP: rs79665582
NCBI 1000 Genomes Browser:
rs79665582
Molecular consequence:
  • NM_001362949.2:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362951.2:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362953.2:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378624.1:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378625.1:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378626.1:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378627.1:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378628.1:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378629.1:c.1296-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378630.1:c.849-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378631.1:c.693-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004737.7:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133642.5:c.1452-225C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001758116GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Jun 30, 2018) 		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, SCV001758116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023