NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr) AND Mandibular prognathia

Clinical significance:Likely pathogenic (Last evaluated: Mar 30, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001258377.1

Allele description [Variation Report for NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr)]

NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr)

Genes:
GPR75-ASB3:GPR75-ASB3 readthrough [Gene - HGNC]
ERLEC1:endoplasmic reticulum lectin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.2
Genomic location:
Preferred name:
NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr)
HGVS:
  • NC_000002.12:g.53814553C>T
  • NG_029742.1:g.32623C>T
  • NM_001127397.3:c.1227-307C>T
  • NM_001127398.3:c.1075C>T
  • NM_001164165.2:c.101+45275G>A
  • NM_015701.5:c.1237C>TMANE SELECT
  • NP_001120870.1:p.His359Tyr
  • NP_056516.2:p.His413Tyr
  • NC_000002.11:g.54041690C>T
  • NM_015701.4:c.1237C>T
Protein change:
H359Y
Molecular consequence:
  • NM_001127397.3:c.1227-307C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164165.2:c.101+45275G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127398.3:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015701.5:c.1237C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mandibular prognathia
Synonyms:
Enlarged mandible; Large mandible; Mandible prognathism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008312; MeSH: D008313; MedGen: C0399526; OMIM: 176700; Human Phenotype Ontology: HP:0000303

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001194318Dongguan Key Laboratory of Genetics and Infectious Diseases,Dongguan Institute of Pediatricsno assertion criteria providedLikely pathogenic
(Mar 30, 2020)
germlinecase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providednot providedcase-control

Details of each submission

From Dongguan Key Laboratory of Genetics and Infectious Diseases,Dongguan Institute of Pediatrics, SCV001194318.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11not providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided11not providednot providednot provided

Last Updated: Oct 24, 2021

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