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NM_000303.3(PMM2):c.391C>G (p.Pro131Ala) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 26, 2021
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:
RCV003064318.2

Allele description [Variation Report for NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)]

NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)

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.391C>G (p.Pro131Ala)
HGVS:
  • NC_000016.10:g.8811122C>G
  • NG_009209.1:g.18310C>G
  • NM_000303.2:c.391C>G
  • NM_000303.3:c.391C>GMANE SELECT
  • NP_000294.1:p.Pro131Ala
  • NC_000016.9:g.8904979C>G
  • NM_000303.3:c.391C>G
Protein change:
P131A
Molecular consequence:
  • NM_000303.3:c.391C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003564181Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(May 26, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E.

Nat Genet. 1997 May;16(1):88-92. Erratum in: Nat Genet 1997 Jul;16(3):316.

PubMed [citation]
PMID:
9140401

A new insight into PMM2 mutations in the French population.

Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupré T, Durand G, Seta N.

Hum Mutat. 2005 May;25(5):504-5.

PubMed [citation]
PMID:
15844218

Details of each submission

From Ambry Genetics, SCV003564181.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.391C>G (p.P131A) alteration is located in exon 5 (coding exon 5) of the PMM2 gene. This alteration results from a C to G substitution at nucleotide position 391, causing the proline (P) at amino acid position 131 to be replaced by an alanine (A). Based on data from the Genome Aggregation Database (gnomAD), the PMM2 c.391C>G alteration was observed in 0.0032% (1/31398) of total alleles studied. This alteration has been reported in patients with congenital disorder of glycosylation type 1a (Matthijs, 1997; Le Bizec, 2005). This amino acid position is highly conserved in available vertebrate species. The p.P131A alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

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

Last Updated: Jan 13, 2025