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

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 6, 2021)
Last evaluated:
Apr 19, 2021
Accession:
VCV001065630.1
Variation ID:
1065630
Description:
2bp deletion
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NM_000528.4(MAN2B1):c.215_216del (p.His72fs)

Allele ID
1053979
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
19p13.13
Genomic location
19: 12665749-12665750 (GRCh38) GRCh38 UCSC
19: 12776563-12776564 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12665749_12665750del
NC_000019.9:g.12776563_12776564del
NG_008318.1:g.6028_6029del
... more HGVS
Protein change
H72fs
Other names
-
Canonical SPDI
NC_000019.10:12665748:AT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 19, 2021 RCV001376179.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAN2B1 - - GRCh38
GRCh37
626 646

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 19, 2021)
criteria provided, single submitter
Method: clinical testing
Intellectual disability
Craniosynostosis syndrome
(Autosomal recessive inheritance)
Allele origin: inherited
Génétique des Maladies du Développement, Hospices Civils de Lyon
Accession: SCV001571478.1
Submitted: (May 06, 2021)
Evidence details
Comment:
truncating variant absent from gnomad. In trans with another pathogenic variant

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 06, 2021