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NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000882923.2
Variation ID:
882923
Description:
single nucleotide variant
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NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala)

Allele ID
868764
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 72108024 (GRCh38) GRCh38 UCSC
11: 71819070 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001393444.1:c.*795G>C 3 prime UTR
NM_001393445.1:c.*795G>C 3 prime UTR
NR_171687.1:n.1419G>C
... more HGVS
Protein change
P114A, P154A, P121A
Other names
-
Canonical SPDI
NC_000011.10:72108023:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1288510412
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 Jan 13, 2018 RCV001113005.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANAPC15 - - GRCh38
GRCh37
- 78
LRTOMT - - GRCh38
GRCh37
15 165
TOMT - - - GRCh38 - 79

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 63
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001270730.1
Submitted: (Feb 20, 2020)
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)

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 rs1288510412...

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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 Jan 15, 2022