NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 17, 2014
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:: RCV000724043.4

Allele description [Variation Report for NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)]

NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)

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.647A>T (p.Asn216Ile)

HGVS:

NC_000016.10:g.8847731A>T
NG_009209.1:g.54919A>T
NM_000303.3:c.647A>TMANE SELECT
NP_000294.1:p.Asn216Ile
NC_000016.9:g.8941588A>T
NM_000303.2:c.647A>T
O15305:p.Asn216Ile

Protein change:

N216I; ASN216ILE

Links:

UniProtKB: O15305#VAR_006110; OMIM: 601785.0002; dbSNP: rs78290141

NCBI 1000 Genomes Browser:

rs78290141

Molecular consequence:

NM_000303.3:c.647A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000232514	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jul 17, 2014)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11156536, 12357336, 12905014, 9140401 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000232514

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jul 17, 2014)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G.

Am J Hum Genet. 2001 Feb;68(2):347-54. Epub 2001 Jan 11.

PubMed [citation]

PMID:: 11156536
PMCID:: PMC1235268

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

Schollen E, Martens K, Geuzens E, Matthijs G.

Eur J Hum Genet. 2002 Oct;10(10):643-8.

PubMed [citation]

PMID:: 12357336

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000232514.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (4)

#	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		2	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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