NM_000528.4(MAN2B1):c.215_216del (p.His72fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Apr 19, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001376179.1

Allele description [Variation Report for NM_000528.4(MAN2B1):c.215_216del (p.His72fs)]

NM_000528.4(MAN2B1):c.215_216del (p.His72fs)

Gene:
MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_000528.4(MAN2B1):c.215_216del (p.His72fs)
HGVS:
  • NC_000019.10:g.12665749_12665750del
  • NG_008318.1:g.6028_6029del
  • NG_015814.1:g.3946_3947del
  • NM_000528.4:c.215_216delMANE SELECT
  • NM_001173498.2:c.215_216del
  • NP_000519.2:p.His72fs
  • NP_001166969.1:p.His72fs
  • NC_000019.9:g.12776563_12776564del
Protein change:
H72fs
Molecular consequence:
  • NM_000528.4:c.215_216del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173498.2:c.215_216del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Craniosynostosis syndrome
Synonyms:
Craniosynostosis; Craniostenosis; Craniosyostosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015469; MeSH: D003398; MedGen: C0010278; OMIM: PS123100; Human Phenotype Ontology: HP:0001363
Name:
Intellectual disability
Synonyms:
Dull intelligence; Low intelligence; Mental deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001071; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001571478Génétique des Maladies du Développement, Hospices Civils de Lyoncriteria provided, single submitter
Pathogenic
(Apr 19, 2021)
inheritedclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001571478.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

truncating variant absent from gnomad. In trans with another pathogenic variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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