rs6088813

chr20-35387378-C-Achr20-35387378-C-Gchr20-35387378-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_018244.5(UQCC1):c.130-3245G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.543 in 151,984 control chromosomes in the GnomAD database, including 23,434 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.54 (23434 hom., cov: 31)
• Consequence: UQCC1 NM_018244.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.573

Genes affected

UQCC1 (HGNC:15891): (ubiquinol-cytochrome c reductase complex assembly factor 1) This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.696 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
UQCC1	NM_018244.5	c.130-3245G>T		intron_variant		ENST00000374385.10

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
UQCC1	ENST00000374385.10	c.130-3245G>T		intron_variant		1	NM_018244.5	P1

Frequencies

GnomAD3 genomes AF: 0.543 AC: 82493 AN: 151866 Hom.: 23428 Cov.: 31

Gnomad AFR AF: 0.366

Gnomad AMI AF: 0.610

Gnomad AMR AF: 0.648

Gnomad ASJ AF: 0.556

Gnomad EAS AF: 0.716

Gnomad SAS AF: 0.444

Gnomad FIN AF: 0.572

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.615

Gnomad OTH AF: 0.564

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.543 AC: 82504 AN: 151984 Hom.: 23434 Cov.: 31 AF XY: 0.541 AC XY: 40223 AN XY: 74284

Gnomad4 AFR AF: 0.365

Gnomad4 AMR AF: 0.649

Gnomad4 ASJ AF: 0.556

Gnomad4 EAS AF: 0.716

Gnomad4 SAS AF: 0.443

Gnomad4 FIN AF: 0.572

Gnomad4 NFE AF: 0.615

Gnomad4 OTH AF: 0.557

Alfa AF: 0.599 Hom.: 42844

Bravo AF: 0.549

Asia WGS AF: 0.483 AC: 1681 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
Cadd	Benign	0.81
Dann	Benign	0.52

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs6088813; hg19: chr20-33975181;