rs1543193

Variant names:

• chr8-77781152-T-A
• rs1543193

Your query was ambiguous. Multiple possible variants found:

• chr8-77781152-T-A
• chr8-77781152-T-C
• chr8-77781152-T-G

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 0.465 in 151,856 control chromosomes in the GnomAD database, including 16,870 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 0.46 (16870 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0500
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.513 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: 0.465 AC: 70501 AN: 151738 Hom.: 16856 Cov.: 31

Gnomad AFR AF: 0.371

Gnomad AMI AF: 0.587

Gnomad AMR AF: 0.468

Gnomad ASJ AF: 0.555

Gnomad EAS AF: 0.255

Gnomad SAS AF: 0.454

Gnomad FIN AF: 0.550

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.518

Gnomad OTH AF: 0.467

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

GnomAD4 genome AF: 0.465 AC: 70541 AN: 151856 Hom.: 16870 Cov.: 31 AF XY: 0.466 AC XY: 34582 AN XY: 74208

African (AFR) AF: 0.371 AC: 15367 AN: 41458

American (AMR) AF: 0.469 AC: 7124 AN: 15204

Ashkenazi Jewish (ASJ) AF: 0.555 AC: 1925 AN: 3468

East Asian (EAS) AF: 0.255 AC: 1312 AN: 5142

South Asian (SAS) AF: 0.454 AC: 2183 AN: 4806

European-Finnish (FIN) AF: 0.550 AC: 5791 AN: 10538

Middle Eastern (MID) AF: 0.520 AC: 153 AN: 294

European-Non Finnish (NFE) AF: 0.518 AC: 35169 AN: 67924

Other (OTH) AF: 0.465 AC: 982 AN: 2110

Alfa AF: 0.363 Hom.: 1008

Bravo AF: 0.454

Asia WGS AF: 0.365 AC: 1271 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.9
DANN	Benign	0.39
PhyloP100		0.050

Splicing

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

Other links and lift over

dbSNP: rs1543193; hg19: chr8-78693387;