rs7836698

Variant names:

• chr8-96230621-C-A
• rs7836698
• NM_006294.5:c.*434G>T

Your query was ambiguous. Multiple possible variants found:

• chr8-96230621-C-A
• chr8-96230621-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_006294.5(UQCRB):​c.*434G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 303,534 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: not found (cov: 32)
  • Exomes 𝑓: 0.0000066 (0 hom.)
• Consequence: UQCRB NM_006294.5 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.61
• Publications: 7 publications found

Genes affected

UQCRB (HGNC:12582): (ubiquinol-cytochrome c reductase binding protein) This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

UQCRB Gene-Disease associations (from GenCC):

• mitochondrial complex III deficiency nuclear type 3

  Inheritance: AR, Unknown Classification: STRONG, LIMITED Submitted by: Ambry Genetics, G2P, Labcorp Genetics (formerly Invitae)
• mitochondrial complex III deficiency

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_006294.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	UQCRB	NM_006294.5	MANE Select	c.*434G>T		3_prime_UTR	Exon 4 of 4	NP_006285.1	P14927-1
	UQCRB	NM_001254752.2		c.*484G>T		3_prime_UTR	Exon 5 of 5	NP_001241681.1	P14927-2
	UQCRB	NM_001199975.3		c.*434G>T		3_prime_UTR	Exon 5 of 5	NP_001186904.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	UQCRB	ENST00000287022.10	TSL:1 MANE Select	c.*434G>T		3_prime_UTR	Exon 4 of 4	ENSP00000287022.5	P14927-1
	UQCRB	ENST00000517603.5	TSL:1	n.*803G>T		non_coding_transcript_exon	Exon 5 of 5	ENSP00000430672.1	E5RIT7
	UQCRB	ENST00000517603.5	TSL:1	n.*803G>T		3_prime_UTR	Exon 5 of 5	ENSP00000430672.1	E5RIT7

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome AF: 0.00000659 AC: 2 AN: 303534 Hom.: 0 Cov.: 0 AF XY: 0.0000116 AC XY: 2 AN XY: 172862

African (AFR) AF: 0.00 AC: 0 AN: 8662

American (AMR) AF: 0.00 AC: 0 AN: 27308

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 10856

East Asian (EAS) AF: 0.00 AC: 0 AN: 9266

South Asian (SAS) AF: 0.00 AC: 0 AN: 59668

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 12442

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 1160

European-Non Finnish (NFE) AF: 0.0000125 AC: 2 AN: 160006

Other (OTH) AF: 0.00 AC: 0 AN: 14166

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 1470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.54
DANN	Benign	0.61
PhyloP100		-1.6

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

Other links and lift over

dbSNP: rs7836698; hg19: chr8-97242849;