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NM_018328.4(MBD5):c.1234G>A (p.Val412Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 22, 2018
Accession:
VCV000420374.2
Variation ID:
420374
Description:
single nucleotide variant
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NM_018328.4(MBD5):c.1234G>A (p.Val412Ile)

Allele ID
405300
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.1
Genomic location
2: 148469177 (GRCh38) GRCh38 UCSC
2: 149226746 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.149226746G>A
NC_000002.12:g.148469177G>A
NM_018328.4:c.1234G>A NP_060798.2:p.Val412Ile missense
... more HGVS
Protein change
V412I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
The Genome Aggregation Database (gnomAD) 0.00013
Exome Aggregation Consortium (ExAC) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00014
Links
ClinGen: CA1899990
dbSNP: rs761118931
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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 6, 2017 RCV000484879.2
Uncertain significance 1 criteria provided, single submitter Oct 22, 2018 RCV000549902.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MBD5 Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
493 549

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000569187.3
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The V412I variant in the MBD5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The ... (more)
Uncertain significance
(Oct 22, 2018)
criteria provided, single submitter
Method: clinical testing
Mental retardation, autosomal dominant 1
Allele origin: germline
Invitae
Accession: SCV000645777.2
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces valine with isoleucine at codon 412 of the MBD5 protein (p.Val412Ile). The valine residue is highly conserved and there is a ... (more)

Citations for this variant

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 Oct 27, 2019