rs8040009

Variant names:

• chr15-92501109-T-C
• rs8040009
• ENST00000624458.1:n.1741T>C

Your query was ambiguous. Multiple possible variants found:

• chr15-92501109-T-C
• chr15-92501109-T-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000624458.1(C15orf32):​n.1741T>C 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 0.302 in 152,106 control chromosomes in the GnomAD database, including 9,895 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 0.30 (9895 hom., cov: 32)
  • Failed GnomAD Quality Control
• Consequence: C15orf32 ENST00000624458.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0110
• Publications: 22 publications found

Genes affected

C15orf32 (HGNC:26549): (chromosome 15 putative open reading frame 32)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.61 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000624458.1. 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
	C15orf32	NR_161370.1		n.1718T>C		non_coding_transcript_exon	Exon 3 of 3
	C15orf32	NR_161371.1		n.1756T>C		non_coding_transcript_exon	Exon 3 of 3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	C15orf32	ENST00000624458.1	TSL:1	n.1741T>C		non_coding_transcript_exon	Exon 3 of 3
	C15orf32	ENST00000726313.1		n.1178T>C		non_coding_transcript_exon	Exon 2 of 2
	C15orf32	ENST00000726314.1		n.857T>C		non_coding_transcript_exon	Exon 2 of 2

Frequencies

GnomAD3 genomes AF: 0.302 AC: 45850 AN: 151988 Hom.: 9883 Cov.: 32

Gnomad AFR AF: 0.617

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.213

Gnomad ASJ AF: 0.150

Gnomad EAS AF: 0.138

Gnomad SAS AF: 0.122

Gnomad FIN AF: 0.157

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.189

Gnomad OTH AF: 0.277

GnomAD4 exome Data not reliable, filtered out with message: AC0 AC: 0 AN: 0 Hom.: 0 Cov.: 0 AC XY: 0 AN XY: 0

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AC: 0 AN: 0

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AC: 0 AN: 0

Other (OTH) AC: 0 AN: 0

GnomAD4 genome AF: 0.302 AC: 45905 AN: 152106 Hom.: 9895 Cov.: 32 AF XY: 0.295 AC XY: 21904 AN XY: 74358

African (AFR) AF: 0.617 AC: 25568 AN: 41458

American (AMR) AF: 0.212 AC: 3246 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.150 AC: 520 AN: 3472

East Asian (EAS) AF: 0.138 AC: 711 AN: 5170

South Asian (SAS) AF: 0.122 AC: 587 AN: 4828

European-Finnish (FIN) AF: 0.157 AC: 1664 AN: 10594

Middle Eastern (MID) AF: 0.211 AC: 62 AN: 294

European-Non Finnish (NFE) AF: 0.189 AC: 12855 AN: 67982

Other (OTH) AF: 0.278 AC: 588 AN: 2114

Alfa AF: 0.216 Hom.: 12992

Bravo AF: 0.321

Asia WGS AF: 0.212 AC: 740 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.4
DANN	Benign	0.66
PhyloP100		0.011
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs8040009;

hg19: chr15-93044339;