chr11-62671813-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001085372.3(UQCC3):āc.68C>Gā(p.Ala23Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,614,008 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001085372.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UQCC3 | NM_001085372.3 | c.68C>G | p.Ala23Gly | missense_variant | Exon 1 of 2 | ENST00000377953.4 | NP_001078841.1 | |
LBHD1 | NM_024099.5 | c.-260G>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.68C>G | p.Ala23Gly | missense_variant | Exon 1 of 2 | 1 | NM_001085372.3 | ENSP00000367189.3 | ||
LBHD1 | ENST00000354588.8 | c.-260G>C | 5_prime_UTR_variant | Exon 1 of 7 | 1 | NM_024099.5 | ENSP00000346600.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461832Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727220
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.68C>G (p.A23G) alteration is located in exon 1 (coding exon 1) of the UQCC3 gene. This alteration results from a C to G substitution at nucleotide position 68, causing the alanine (A) at amino acid position 23 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at