chr10-98410626-G-C

Variant names:

• chr10-98410626-G-C
• rs6584202
• ENST00000483923.5:n.1036C>G

Variant summary

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

The ENST00000483923.5(PYROXD2):​n.1036C>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000717 in 278,930 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: 0.0000072 (0 hom.)
• Consequence: PYROXD2 ENST00000483923.5 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.855
• Publications: 20 publications found

Genes affected

PYROXD2 (HGNC:23517): (pyridine nucleotide-disulphide oxidoreductase domain 2) Predicted to enable oxidoreductase activity. Involved in mitochondrion organization. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]

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=-0.89).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000483923.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PYROXD2	NM_032709.3	MANE Select	c.147+313C>G		intron	N/A	NP_116098.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PYROXD2	ENST00000483923.5	TSL:1	n.1036C>G		non_coding_transcript_exon	Exon 2 of 15
	PYROXD2	ENST00000370575.5	TSL:1 MANE Select	c.147+313C>G		intron	N/A	ENSP00000359607.4

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome AF: 0.00000717 AC: 2 AN: 278930 Hom.: 0 Cov.: 3 AF XY: 0.00 AC XY: 0 AN XY: 144356

African (AFR) AF: 0.00 AC: 0 AN: 7814

American (AMR) AF: 0.00 AC: 0 AN: 9776

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 9522

East Asian (EAS) AF: 0.00 AC: 0 AN: 18788

South Asian (SAS) AF: 0.00 AC: 0 AN: 21652

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 19316

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 1398

European-Non Finnish (NFE) AF: 0.0000115 AC: 2 AN: 173360

Other (OTH) AF: 0.00 AC: 0 AN: 17304

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 15769

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.025
DANN	Benign	0.44
PhyloP100		-0.85

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: rs6584202; hg19: chr10-100170383;