rs35951010

Variant names:

• chr6-88135012-G-C
• rs35951010

Your query was ambiguous. Multiple possible variants found:

• chr6-88135012-G-C
• chr6-88135012-G-T

Variant summary

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

The variant allele was found at a frequency of 0.112 in 152,178 control chromosomes in the GnomAD database, including 1,359 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 0.11 (1359 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0170

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.55).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.158 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: 0.112 AC: 17025 AN: 152060 Hom.: 1358 Cov.: 32

Gnomad AFR AF: 0.0256

Gnomad AMI AF: 0.0504

Gnomad AMR AF: 0.0788

Gnomad ASJ AF: 0.105

Gnomad EAS AF: 0.00269

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.222

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.160

Gnomad OTH AF: 0.121

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

GnomAD4 genome AF: 0.112 AC: 17023 AN: 152178 Hom.: 1359 Cov.: 32 AF XY: 0.114 AC XY: 8509 AN XY: 74386

Gnomad4 AFR AF: 0.0255

Gnomad4 AMR AF: 0.0786

Gnomad4 ASJ AF: 0.105

Gnomad4 EAS AF: 0.00270

Gnomad4 SAS AF: 0.166

Gnomad4 FIN AF: 0.222

Gnomad4 NFE AF: 0.160

Gnomad4 OTH AF: 0.124

Alfa AF: 0.0762 Hom.: 98

Bravo AF: 0.0970

Asia WGS AF: 0.105 AC: 365 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.55
CADD	Benign	8.2
DANN	Benign	0.78

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs35951010; hg19: chr6-88844731; COSMIC: COSV65673254;