chr9-97970520-A-G

Position:

• chr9-97970520-A-G

Variant summary

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

The XR_007061686.1(LOC124902226):​n.654T>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 0.198 in 152,144 control chromosomes in the GnomAD database, including 3,454 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 0.20 (3454 hom., cov: 31)
• Consequence: LOC124902226 XR_007061686.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.284

Genes affected

LOC124902226 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.259 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC124902226	XR_007061686.1	n.654T>C		non_coding_transcript_exon_variant	3/3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.198 AC: 30146 AN: 152026 Hom.: 3456 Cov.: 31

Gnomad AFR AF: 0.109

Gnomad AMI AF: 0.0757

Gnomad AMR AF: 0.196

Gnomad ASJ AF: 0.239

Gnomad EAS AF: 0.132

Gnomad SAS AF: 0.0864

Gnomad FIN AF: 0.214

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.263

Gnomad OTH AF: 0.227

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

GnomAD4 genome AF: 0.198 AC: 30155 AN: 152144 Hom.: 3454 Cov.: 31 AF XY: 0.194 AC XY: 14435 AN XY: 74374

Gnomad4 AFR AF: 0.109

Gnomad4 AMR AF: 0.196

Gnomad4 ASJ AF: 0.239

Gnomad4 EAS AF: 0.132

Gnomad4 SAS AF: 0.0871

Gnomad4 FIN AF: 0.214

Gnomad4 NFE AF: 0.262

Gnomad4 OTH AF: 0.225

Alfa AF: 0.234 Hom.: 2127

Bravo AF: 0.194

Asia WGS AF: 0.132 AC: 458 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	8.6
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4618817; hg19: chr9-100732802;