NM_177433.3(MAGED2):c.617_618insG (p.Ala208fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 13, 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:: RCV002469647.1

Allele description [Variation Report for NM_177433.3(MAGED2):c.617_618insG (p.Ala208fs)]

NM_177433.3(MAGED2):c.617_618insG (p.Ala208fs)

Gene:

MAGED2:MAGE family member D2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

Xp11.21

Genomic location:

Preferred name:

NM_177433.3(MAGED2):c.617_618insG (p.Ala208fs)

HGVS:

NC_000023.11:g.54810900_54810901insG
NG_012844.1:g.8163_8164insG
NM_014599.6:c.617_618insG
NM_177433.3:c.617_618insGMANE SELECT
NM_201222.3:c.617_618insG
NP_055414.2:p.Ala208fs
NP_803182.1:p.Ala208fs
NP_957516.1:p.Ala208fs
NC_000023.10:g.54837333_54837334insG

Protein change:

A208fs

Molecular consequence:

NM_014599.6:c.617_618insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_177433.3:c.617_618insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201222.3:c.617_618insG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RLI-metagenome of Phase one in RL
RLI-metagenome of Phase one in RL

biosample
Gossypium hirsutum voucher 250342 trnH-psbA intergenic spacer, partial sequence;...
Gossypium hirsutum voucher 250342 trnH-psbA intergenic spacer, partial sequence; and photosystem II protein D1 (psbA) gene, partial cds; chloroplast
gi|299737512|gb|HM437903.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002765433	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 13, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002765433

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 13, 2022)

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, SCV002765433.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

#	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: Sep 1, 2024

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