rs1336433

Variant names:

• chr10-111598317-A-C
• rs1336433

Your query was ambiguous. Multiple possible variants found:

• chr10-111598317-A-C
• chr10-111598317-A-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 0.418 in 151,910 control chromosomes in the GnomAD database, including 13,702 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 0.42 (13702 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.49

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.468 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: 0.418 AC: 63515 AN: 151792 Hom.: 13684 Cov.: 32

Gnomad AFR AF: 0.474

Gnomad AMI AF: 0.344

Gnomad AMR AF: 0.309

Gnomad ASJ AF: 0.480

Gnomad EAS AF: 0.183

Gnomad SAS AF: 0.409

Gnomad FIN AF: 0.451

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.421

Gnomad OTH AF: 0.408

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

GnomAD4 genome AF: 0.418 AC: 63559 AN: 151910 Hom.: 13702 Cov.: 32 AF XY: 0.416 AC XY: 30902 AN XY: 74242

Gnomad4 AFR AF: 0.474

Gnomad4 AMR AF: 0.309

Gnomad4 ASJ AF: 0.480

Gnomad4 EAS AF: 0.183

Gnomad4 SAS AF: 0.408

Gnomad4 FIN AF: 0.451

Gnomad4 NFE AF: 0.421

Gnomad4 OTH AF: 0.410

Alfa AF: 0.314 Hom.: 1185

Bravo AF: 0.407

Asia WGS AF: 0.296 AC: 1031 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.97
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1336433; hg19: chr10-113358075;