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NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 22, 2018
Accession:
VCV000657754.1
Variation ID:
657754
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys)

Allele ID
640413
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68933481 (GRCh38) GRCh38 UCSC
11: 68700949 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68933481G>A
NC_000011.9:g.68700949G>A
NG_007976.1:g.34631G>A
... more HGVS
Protein change
R473K
Other names
-
Canonical SPDI
NC_000011.10:68933480:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1594451539
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 22, 2018 RCV000814435.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IGHMBP2 - - GRCh38
GRCh37
823 839

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 22, 2018)
criteria provided, single submitter
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
Allele origin: germline
Invitae
Accession: SCV000954845.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces arginine with lysine at codon 473 of the IGHMBP2 protein (p.Arg473Lys). The arginine residue is weakly conserved and there is a … (more)

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 rs1594451539...

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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 Dec 04, 2021