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NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala) AND Muscle eye brain disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001834804.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala)]

NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala)

Gene:
POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala)
HGVS:
  • NC_000001.11:g.46197752T>C
  • NG_009205.3:g.27554A>G
  • NM_001243766.2:c.70A>G
  • NM_017739.4:c.70A>GMANE SELECT
  • NP_001230695.2:p.Thr24Ala
  • NP_060209.3:p.Thr24Ala
  • NP_060209.4:p.Thr24Ala
  • LRG_701t1:c.70A>G
  • LRG_701t2:c.70A>G
  • LRG_701:g.27554A>G
  • LRG_701p1:p.Thr24Ala
  • LRG_701p2:p.Thr24Ala
  • NC_000001.10:g.46663424T>C
  • NG_009205.2:g.27554A>G
  • NM_017739.3:c.70A>G
Protein change:
T24A
Links:
dbSNP: rs766907690
NCBI 1000 Genomes Browser:
rs766907690
Molecular consequence:
  • NM_001243766.2:c.70A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017739.4:c.70A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Muscle eye brain disease (MEB)
Synonyms:
Santavuori congenital muscular dystrophy
Identifiers:
MONDO: MONDO:0018939; MedGen: C0457133; Orphanet: 588; Orphanet: 899

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002090248Natera, Inc.
no assertion criteria provided
Uncertain significance
(Apr 20, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002090248.1

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

Last Updated: Sep 29, 2024