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NM_002180.2(IGHMBP2):c.1071C>T (p.Ala357=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 25, 2018
Accession:
VCV000618178.3
Variation ID:
618178
Description:
single nucleotide variant
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NM_002180.2(IGHMBP2):c.1071C>T (p.Ala357=)

Allele ID
609811
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68929193 (GRCh38) GRCh38 UCSC
11: 68696661 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68929193C>T
NC_000011.9:g.68696661C>T
NM_002180.2:c.1071C>T NP_002171.2:p.Ala357= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:68929192:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs755300047
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 25, 2018 RCV000756268.2
Likely benign 1 criteria provided, single submitter Mar 22, 2018 RCV001426123.1
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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
Likely benign
(Mar 07, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000884026.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The c.1071C>T; p.Ala357Ala variant (rs755300047) does not alter the amino acid sequence of the IGHMBP2 protein and computational splice site prediction algorithms do not predict … (more)
Likely benign
(Mar 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001079421.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Mar 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: SCV001628770.1
Submitted: (Jan 07, 2021)
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 rs755300047...

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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 May 26, 2021