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NM_000303.3(PMM2):c.325A>T (p.Lys109Ter) AND PMM2-congenital disorder of glycosylation

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 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:
RCV002307995.2

Allele description [Variation Report for NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)]

NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)

Gene:
PMM2:phosphomannomutase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.2
Genomic location:
Preferred name:
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)
HGVS:
  • NC_000016.10:g.8806385A>T
  • NG_009209.1:g.13573A>T
  • NM_000303.3:c.325A>TMANE SELECT
  • NP_000294.1:p.Lys109Ter
  • NC_000016.9:g.8900242A>T
Protein change:
K109*
Molecular consequence:
  • NM_000303.3:c.325A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
PMM2-congenital disorder of glycosylation
Synonyms:
CDG Ia; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia; CDG 1A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008907; MedGen: C0349653; Orphanet: 79318; OMIM: 212065

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002604460Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 3, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002604460.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000303.2(PMM2):c.325A>T(K109*) is expected to be pathogenic in the context of congenital disorder of glycosylation type Ia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PMM2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024