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NM_000254.2(MTR):c.1033G>A (p.Val345Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000296557.6
Variation ID:
296557
Description:
single nucleotide variant
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NM_000254.2(MTR):c.1033G>A (p.Val345Ile)

Allele ID
279787
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 236829226 (GRCh38) GRCh38 UCSC
1: 236992526 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.236992526G>A
NC_000001.11:g.236829226G>A
NM_001291940.2:c.-76G>A 5 prime UTR
... more HGVS
Protein change
V345I
Other names
-
Canonical SPDI
NC_000001.11:236829225:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00499 (A)

Allele frequency
1000 Genomes Project 0.00499
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00554
Trans-Omics for Precision Medicine (TOPMed) 0.00487
The Genome Aggregation Database (gnomAD) 0.00500
Links
ClinGen: CA1473969
dbSNP: rs145006491
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000265427.2
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000642169.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 5, 2019 RCV000433914.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MTR - - GRCh38
GRCh37
451 506

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 27, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000524989.3
Submitted: (Nov 28, 2017)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Apr 05, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157042.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Disorders of Intracellular Cobalamin Metabolism
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000356026.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Methylcobalamin deficiency type cblG
Allele origin: germline
Invitae
Accession: SCV000763823.4
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 rs145006491...

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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