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NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 9, 2020)
Last evaluated:
Nov 24, 2015
Accession:
VCV000520823.2
Variation ID:
520823
Description:
1bp deletion
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NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)

Allele ID
512380
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12649968 (GRCh38) GRCh38 UCSC
19: 12760782 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12649969del
NC_000019.9:g.12760783del
NM_000528.4:c.2212del MANE Select NP_000519.2:p.Glu738fs frameshift
... more HGVS
Protein change
E737fs, E738fs
Other names
-
Canonical SPDI
NC_000019.10:12649967:CC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658799153
dbSNP: rs1555706706
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 Nov 24, 2015 RCV000623866.1

Clinical features observed in individuals with this variant

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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
(Nov 24, 2015)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000741127.2
Submitted: (Oct 09, 2020)
Evidence details

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.

Text-mined citations for rs1555706706...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 21, 2020