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NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) AND Schaaf-Yang syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 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:
RCV003227985.1

Allele description [Variation Report for NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)]

NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)

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.1991C>T (p.Pro664Leu)
HGVS:
  • NC_000015.10:g.23645752G>A
  • NG_016776.1:g.7095C>T
  • NM_019066.5:c.1991C>TMANE SELECT
  • NP_061939.3:p.Pro664Leu
  • LRG_1046t1:c.1991C>T
  • LRG_1046:g.7095C>T
  • LRG_1046p1:p.Pro664Leu
  • NC_000015.9:g.23890899G>A
Protein change:
P664L
Links:
dbSNP: rs201935129
NCBI 1000 Genomes Browser:
rs201935129
Molecular consequence:
  • NM_019066.5:c.1991C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Schaaf-Yang syndrome (SHFYNG)
Synonyms:
Arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies; MAGEL2-related Prader-Willi-like syndrome
Identifiers:
MONDO: MONDO:0014243; MedGen: C5575066; OMIM: 615547

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925074New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Mar 14, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV003925074.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024