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NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) AND ALG12-congenital disorder of glycosylation

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483423.1

Allele description [Variation Report for NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)]

NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)

Gene:
ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
Other names:
S258L
HGVS:
  • NC_000016.10:g.5078789C>T
  • NG_009202.1:g.11981C>T
  • NM_001330504.2:c.440C>T
  • NM_019109.5:c.773C>TMANE SELECT
  • NP_001317433.1:p.Ser147Leu
  • NP_061982.3:p.Ser258Leu
  • NP_061982.3:p.Ser258Leu
  • NC_000016.9:g.5128790C>T
  • NM_019109.5:c.773C>T
  • Q9BT22:p.Ser258Leu
Protein change:
S147L; SER258LEU
Links:
UniProtKB: Q9BT22#VAR_023365; OMIM: 605907.0001; dbSNP: rs28939378
NCBI 1000 Genomes Browser:
rs28939378
Molecular consequence:
  • NM_001330504.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019109.5:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ALG12-congenital disorder of glycosylation (CDG1G)
Synonyms:
CDG Ig; CDG 1G; Congenital disorder of glycosylation, type Ig; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011783; MedGen: C2931001; Orphanet: 79324; OMIM: 607143

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228847GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedgermlinephenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228847.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 01-08-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024