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NM_133642.5(LARGE1):c.408+8G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 23, 2014
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:
RCV000724239.7

Allele description [Variation Report for NM_133642.5(LARGE1):c.408+8G>A]

NM_133642.5(LARGE1):c.408+8G>A

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.408+8G>A
HGVS:
  • NC_000022.11:g.33650359C>T
  • NG_009929.2:g.275070G>A
  • NM_001362949.2:c.408+8G>A
  • NM_001362951.2:c.408+8G>A
  • NM_001362953.2:c.408+8G>A
  • NM_001378624.1:c.408+8G>A
  • NM_001378625.1:c.408+8G>A
  • NM_001378626.1:c.408+8G>A
  • NM_001378627.1:c.408+8G>A
  • NM_001378628.1:c.408+8G>A
  • NM_001378629.1:c.408+8G>A
  • NM_004737.7:c.408+8G>A
  • NM_133642.5:c.408+8G>AMANE SELECT
  • LRG_856t1:c.408+8G>A
  • LRG_856t2:c.408+8G>A
  • LRG_856:g.275070G>A
  • NC_000022.10:g.34046345C>T
  • NM_004737.4:c.408+8G>A
Links:
dbSNP: rs141818070
NCBI 1000 Genomes Browser:
rs141818070
Molecular consequence:
  • NM_001362949.2:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362951.2:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362953.2:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378624.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378625.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378626.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378627.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378628.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378629.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004737.7:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133642.5:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000230240Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Oct 23, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000230240.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: May 7, 2024