rs727503165
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNR1 | unassigned_transcript_4785 | n.343T>C | non_coding_transcript_exon_variant | Exon 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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Frequencies
GnomAD4 exome Cov.: 0
Mitomap
ClinVar
Submissions by phenotype
not specified Benign:1
m.990T>C in MT-RNR1: The m.990T>C variant has been previously reported in 2/908 (0.2%) individuals with hearing loss and was not detected in 849 controls in tho se studies (Konings 2008, Shen 2011). However, it has been identified in 1.89% ( 19/1008) of individuals from broad populations by several human phylogeny studie s (MitoMap.org). Therefore, in the absence of any statistically significant asso ciation to hearing loss, the frequency of this variant in the general population , as evidenced by the phylogeny studies, suggests that it is likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at