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NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000749278.4
Variation ID:
749278
Description:
single nucleotide variant
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NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys)

Allele ID
756710
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12647272 (GRCh38) GRCh38 UCSC
19: 12758086 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12647272G>A
NC_000019.9:g.12758086G>A
NM_000528.4:c.2884C>T MANE Select NP_000519.2:p.Arg962Cys missense
... more HGVS
Protein change
R961C, R962C
Other names
-
Canonical SPDI
NC_000019.10:12647271:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00074
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00092
1000 Genomes Project 0.00240
The Genome Aggregation Database (gnomAD) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
dbSNP: rs370276057
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Nov 26, 2020 RCV000926142.4
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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
Benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of alpha-mannosidase
Allele origin: germline
Invitae
Accession: SCV001071702.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 10, 2020)
no assertion criteria provided
Method: clinical testing
Alpha-mannosidosis
Allele origin: germline
Natera, Inc.
Accession: SCV001453905.1
Submitted: (Dec 28, 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 rs370276057...

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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 Jun 14, 2021