rs10435736

Variant names:

• chr9-31419917-G-C
• rs10435736

Your query was ambiguous. Multiple possible variants found:

• chr9-31419917-G-C
• chr9-31419917-G-T

Variant summary

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

The variant allele was found at a frequency of 0.175 in 152,038 control chromosomes in the GnomAD database, including 2,528 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 0.18 (2528 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.457
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.265 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.175 AC: 26597 AN: 151922 Hom.: 2518 Cov.: 32

Gnomad AFR AF: 0.195

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.246

Gnomad ASJ AF: 0.162

Gnomad EAS AF: 0.277

Gnomad SAS AF: 0.236

Gnomad FIN AF: 0.139

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.141

Gnomad OTH AF: 0.173

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

GnomAD4 genome AF: 0.175 AC: 26645 AN: 152038 Hom.: 2528 Cov.: 32 AF XY: 0.179 AC XY: 13265 AN XY: 74296

African (AFR) AF: 0.196 AC: 8114 AN: 41478

American (AMR) AF: 0.247 AC: 3768 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.162 AC: 562 AN: 3468

East Asian (EAS) AF: 0.277 AC: 1424 AN: 5138

South Asian (SAS) AF: 0.237 AC: 1141 AN: 4810

European-Finnish (FIN) AF: 0.139 AC: 1465 AN: 10576

Middle Eastern (MID) AF: 0.146 AC: 43 AN: 294

European-Non Finnish (NFE) AF: 0.141 AC: 9576 AN: 67986

Other (OTH) AF: 0.178 AC: 375 AN: 2110

Alfa AF: 0.157 Hom.: 232

Bravo AF: 0.186

Asia WGS AF: 0.253 AC: 877 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.2
DANN	Benign	0.45
PhyloP100		0.46

Splicing

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

Other links and lift over

dbSNP: rs10435736; hg19: chr9-31419915;