Variant summary: MTMR14 c.85C>G (p.Leu29Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 223200 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.85C>G in individuals affected with Autosomal Dominant Centronuclear Myopathy and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.
ClinVar Genomic variation as it relates to human health
NM_001077525.3(MTMR14):c.85C>G (p.Leu29Val)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001077525.3(MTMR14):c.85C>G (p.Leu29Val)
Variation ID: 3233708 Accession: VCV003233708.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p25.3 3: 9649668 (GRCh38) [ NCBI UCSC ] 3: 9691352 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 8, 2024 Jul 7, 2024 Mar 1, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001077525.3:c.85C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001070993.1:p.Leu29Val missense NM_001077526.3:c.85C>G NP_001070994.1:p.Leu29Val missense NM_001400518.1:c.-49C>G 5 prime UTR NM_001400519.1:c.85C>G NP_001387448.1:p.Leu29Val missense NM_001400520.1:c.85C>G NP_001387449.1:p.Leu29Val missense NM_001400521.1:c.-49C>G 5 prime UTR NM_001400522.1:c.85C>G NP_001387451.1:p.Leu29Val missense NM_001400523.1:c.85C>G NP_001387452.1:p.Leu29Val missense NM_001400524.1:c.85C>G NP_001387453.1:p.Leu29Val missense NM_001400525.1:c.-49C>G 5 prime UTR NM_001400526.1:c.-49C>G 5 prime UTR NM_001400527.1:c.85C>G NP_001387456.1:p.Leu29Val missense NM_001400528.1:c.85C>G NP_001387457.1:p.Leu29Val missense NM_001400529.1:c.-49C>G 5 prime UTR NM_001400530.1:c.85C>G NP_001387459.1:p.Leu29Val missense NM_001400531.1:c.85C>G NP_001387460.1:p.Leu29Val missense NM_001400532.1:c.-49C>G 5 prime UTR NM_001400533.1:c.-421C>G 5 prime UTR NM_001400534.1:c.-482C>G 5 prime UTR NM_001400535.1:c.-272C>G 5 prime UTR NM_001400536.1:c.85C>G NP_001387465.1:p.Leu29Val missense NM_001400537.1:c.-49C>G 5 prime UTR NM_001400538.1:c.-482C>G 5 prime UTR NM_001400539.1:c.-421C>G 5 prime UTR NM_001400540.1:c.-449C>G 5 prime UTR NM_001400541.1:c.-482C>G 5 prime UTR NM_001400542.1:c.-684C>G 5 prime UTR NM_001400543.1:c.-243C>G 5 prime UTR NM_001400544.1:c.-494C>G 5 prime UTR NM_001400545.1:c.-421C>G 5 prime UTR NM_001400546.1:c.-482C>G 5 prime UTR NM_001400547.1:c.-631C>G 5 prime UTR NM_001400548.1:c.-555C>G 5 prime UTR NM_001400549.1:c.-482C>G 5 prime UTR NM_001400550.1:c.-385C>G 5 prime UTR NM_022485.5:c.85C>G NP_071930.2:p.Leu29Val missense NR_174503.1:n.164C>G non-coding transcript variant NR_174504.1:n.164C>G non-coding transcript variant NR_174505.1:n.164C>G non-coding transcript variant NR_174506.1:n.164C>G non-coding transcript variant NR_174507.1:n.164C>G non-coding transcript variant NR_174508.1:n.164C>G non-coding transcript variant NR_174509.1:n.164C>G non-coding transcript variant NR_174510.1:n.164C>G non-coding transcript variant NR_174511.1:n.164C>G non-coding transcript variant NC_000003.12:g.9649668C>G NC_000003.11:g.9691352C>G NG_017068.1:g.5236C>G NG_098539.1:g.632C>G NG_098539.2:g.669C>G - Protein change
- L29V
- Other names
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- Canonical SPDI
- NC_000003.12:9649667:C:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| MTMR14 | - | - |
GRCh38 GRCh37 |
257 | 318 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Mar 1, 2024 | RCV004526558.2 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Mar 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV005040549.2
First in ClinVar: May 07, 2024 Last updated: Jul 07, 2024 |
Comment:
Variant summary: MTMR14 c.85C>G (p.Leu29Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: MTMR14 c.85C>G (p.Leu29Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 223200 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.85C>G in individuals affected with Autosomal Dominant Centronuclear Myopathy and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
Comment:
Germline Functional Evidence
| 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. |
Comment:
Variant summary: MTMR14 c.85C>G (p.Leu29Val) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 223200 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.85C>G in individuals affected with Autosomal Dominant Centronuclear Myopathy and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.