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NM_019109.5(ALG1):c.208+16_208+19dup AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Mar 18, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000081985.8

Allele description [Variation Report for NM_019109.5(ALG1):c.208+16_208+19dup]

NM_019109.5(ALG1):c.208+16_208+19dup

Genes:
ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]
LOC130058384:ATAC-STARR-seq lymphoblastoid active region 10349 [Gene]
Variant type:
Duplication
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_019109.5(ALG1):c.208+16_208+19dup
HGVS:
  • NC_000016.10:g.5072073_5072076dup
  • NG_009202.1:g.5265_5268dup
  • NM_019109.5:c.208+16_208+19dupMANE SELECT
  • NC_000016.9:g.5122072_5122073insGTCT
  • NC_000016.9:g.5122074_5122077dup
  • NM_019109.4:c.208+16_208+19dup
  • NM_019109.4:c.208+16_208+19dupTCTG
Links:
dbSNP: rs35400794
NCBI 1000 Genomes Browser:
rs35400794
Molecular consequence:
  • NM_019109.5:c.208+16_208+19dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
29

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000113920Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)		Benign
(May 6, 2014) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV002500483Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Mar 18, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown29not providednot providednot providednot providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113920.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided29not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided29not providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002500483.1

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

Last Updated: Feb 28, 2024