NM_001085372.3:c.168C>G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001085372.3(UQCC3):āc.168C>Gā(p.Thr56Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,550 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001085372.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UQCC3 | NM_001085372.3 | c.168C>G | p.Thr56Thr | synonymous_variant | Exon 2 of 2 | ENST00000377953.4 | NP_001078841.1 | |
LBHD1 | NM_024099.5 | c.-447G>C | 5_prime_UTR_variant | Exon 1 of 7 | ENST00000354588.8 | NP_077004.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UQCC3 | ENST00000377953.4 | c.168C>G | p.Thr56Thr | synonymous_variant | Exon 2 of 2 | 1 | NM_001085372.3 | ENSP00000367189.3 | ||
LBHD1 | ENST00000354588.8 | c.-447G>C | 5_prime_UTR_variant | Exon 1 of 7 | 1 | NM_024099.5 | ENSP00000346600.3 | |||
UQCC3 | ENST00000531323.1 | c.168C>G | p.Thr56Thr | synonymous_variant | Exon 3 of 3 | 3 | ENSP00000432692.1 | |||
LBHD1 | ENST00000528862.2 | c.93+127G>C | intron_variant | Intron 1 of 2 | 3 | ENSP00000434489.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461550Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727082
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.