NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 10, 2017
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:: RCV000340676.3

Allele description [Variation Report for NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)]

NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)

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.90C>G (p.Asp30Glu)

HGVS:

NC_000016.10:g.8801822C>G
NG_009209.1:g.9010C>G
NG_033146.1:g.827G>C
NM_000303.3:c.90C>GMANE SELECT
NP_000294.1:p.Asp30Glu
NC_000016.9:g.8895679C>G
NM_000303.2:c.90C>G

Protein change:

D30E

Links:

dbSNP: rs201556985

NCBI 1000 Genomes Browser:

rs201556985

Molecular consequence:

NM_000303.3:c.90C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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advanced glycosylation end product-specific receptor variant AA [Homo sapiens]
advanced glycosylation end product-specific receptor variant AA [Homo sapiens]
gi|190402997|gb|ACE78168.1|

Protein
3-oxoacid CoA transferase 1 [Mus musculus]
3-oxoacid CoA transferase 1 [Mus musculus]
gi|13097345|gb|AAH03422.1|

Protein
7q78h11.x1 NCI_CGAP_Lu24 Homo sapiens cDNA clone IMAGE:3704685 3', mRNA sequence
7q78h11.x1 NCI_CGAP_Lu24 Homo sapiens cDNA clone IMAGE:3704685 3', mRNA sequence
gi|11130872|gnl|dbEST|6671954|gb|BF 4.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000732794	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Jul 10, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000732794

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Jul 10, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000732794.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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