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NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 23, 2020
Accession:
VCV001010569.1
Variation ID:
1010569
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser)

Allele ID
994755
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68929335 (GRCh38) GRCh38 UCSC
11: 68696803 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68929335C>T
NC_000011.9:g.68696803C>T
NM_002180.3:c.1213C>T MANE Select NP_002171.2:p.Pro405Ser missense
... more HGVS
Protein change
P405S
Other names
-
Canonical SPDI
NC_000011.10:68929334:C:T
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
Uncertain significance 1 criteria provided, single submitter May 23, 2020 RCV001308213.1
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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
810 826

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 23, 2020)
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: SCV001497652.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces proline with serine at codon 405 of the IGHMBP2 protein (p.Pro405Ser). The proline residue is highly 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.

Record last updated Mar 12, 2021