NM_024079.5(ALG8):c.981dup (p.Val328fs) AND ALG8 congenital disorder of glycosylation

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 3, 2022
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:: RCV001229117.12

Allele description [Variation Report for NM_024079.5(ALG8):c.981dup (p.Val328fs)]

NM_024079.5(ALG8):c.981dup (p.Val328fs)

Gene:

ALG8:ALG8 alpha-1,3-glucosyltransferase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q14.1

Genomic location:

Preferred name:

NM_024079.5(ALG8):c.981dup (p.Val328fs)

HGVS:

NC_000011.10:g.78109499dup
NG_008926.1:g.35155dup
NM_001007027.3:c.981dup
NM_024079.5:c.981dupMANE SELECT
NP_001007028.1:p.Val328fs
NP_076984.2:p.Val328fs
NC_000011.9:g.77820544_77820545insT
NC_000011.9:g.77820545dup
NM_024079.4:c.981dup
NM_024079.4:c.981dupA

Protein change:

V328fs

Links:

dbSNP: rs777686455

NCBI 1000 Genomes Browser:

rs777686455

Molecular consequence:

NM_001007027.3:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024079.5:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: ALG8 congenital disorder of glycosylation
Synonyms:: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG Ih; Congenital disorder of glycosylation type 1H; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011969; MedGen: C2931002; Orphanet: 79325; OMIM: 608104

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001401554	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 3, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19862844, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001401554

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 3, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Haeuptle MA, Hennet T.

Hum Mutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126. Review.

PubMed [citation]

PMID:: 19862844

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001401554.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 956334). This variant has not been reported in the literature in individuals affected with ALG8-related conditions. This variant is present in population databases (rs777686455, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Val328Serfs*28) in the ALG8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALG8 are known to be pathogenic (PMID: 19862844).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 11, 2024

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