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NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 8, 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:
RCV002923682.2

Allele description [Variation Report for NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)]

NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)

Gene:
MAGEL2:MAGE family member L2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q11.2
Genomic location:
Preferred name:
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
HGVS:
  • NC_000015.10:g.23644486G>T
  • NG_016776.1:g.8361C>A
  • NM_019066.5:c.3257C>AMANE SELECT
  • NP_061939.3:p.Ala1086Asp
  • LRG_1046t1:c.3257C>A
  • LRG_1046:g.8361C>A
  • LRG_1046p1:p.Ala1086Asp
  • NC_000015.9:g.23889633G>T
  • NM_019066.4:c.3257C>A
Protein change:
A1086D
Molecular consequence:
  • NM_019066.5:c.3257C>A - 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
SCV003544403Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 8, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003544403.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 20, 2024