8-102196028-T-C

Variant names:

• chr8-102196028-T-C
• rs1265145

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 0.969 in 152,310 control chromosomes in the GnomAD database, including 71,948 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 0.97 (71948 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0280

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.987 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: 0.969 AC: 147482 AN: 152192 Hom.: 71904 Cov.: 32

Gnomad AFR AF: 0.995

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.931

Gnomad ASJ AF: 0.976

Gnomad EAS AF: 0.616

Gnomad SAS AF: 0.899

Gnomad FIN AF: 0.973

Gnomad MID AF: 0.997

Gnomad NFE AF: 0.993

Gnomad OTH AF: 0.963

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

GnomAD4 genome AF: 0.969 AC: 147580 AN: 152310 Hom.: 71948 Cov.: 32 AF XY: 0.965 AC XY: 71846 AN XY: 74484

Gnomad4 AFR AF: 0.995

Gnomad4 AMR AF: 0.930

Gnomad4 ASJ AF: 0.976

Gnomad4 EAS AF: 0.615

Gnomad4 SAS AF: 0.899

Gnomad4 FIN AF: 0.973

Gnomad4 NFE AF: 0.993

Gnomad4 OTH AF: 0.959

Alfa AF: 0.982 Hom.: 107140

Bravo AF: 0.966

Asia WGS AF: 0.744 AC: 2587 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.0
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1265145; hg19: chr8-103208256;