NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 28, 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:: RCV002516577.2

Allele description [Variation Report for NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)]

NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)

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.61C>T (p.Arg21Trp)

HGVS:

NC_000016.10:g.8797943C>T
NG_009209.1:g.5131C>T
NG_033146.1:g.4706G>A
NM_000303.3:c.61C>TMANE SELECT
NP_000294.1:p.Arg21Trp
NC_000016.9:g.8891800C>T
NM_000303.2:c.61C>T

Protein change:

R21W

Links:

dbSNP: rs758340382

NCBI 1000 Genomes Browser:

rs758340382

Molecular consequence:

NM_000303.3:c.61C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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E3 ubiquitin-protein ligase RNF25 isoform 1 [Mus musculus]
E3 ubiquitin-protein ligase RNF25 isoform 1 [Mus musculus]
gi|228008349|ref|NP_067288.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003567893	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 28, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003567893

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 28, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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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

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S.

Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3.

PubMed [citation]

PMID:: 28122681

Details of each submission

From Ambry Genetics, SCV003567893.2

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

Description

(Al Teneiji, 2017) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Oct 8, 2024

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