rs2741335

Variant names:

• chr8-27480274-A-C
• rs2741335

Your query was ambiguous. Multiple possible variants found:

• chr8-27480274-A-C
• chr8-27480274-A-G
• chr8-27480274-A-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 0.395 in 152,052 control chromosomes in the GnomAD database, including 14,613 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 0.39 (14613 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.686 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: 0.395 AC: 59949 AN: 151934 Hom.: 14581 Cov.: 32

Gnomad AFR AF: 0.693

Gnomad AMI AF: 0.189

Gnomad AMR AF: 0.308

Gnomad ASJ AF: 0.350

Gnomad EAS AF: 0.241

Gnomad SAS AF: 0.243

Gnomad FIN AF: 0.383

Gnomad MID AF: 0.408

Gnomad NFE AF: 0.263

Gnomad OTH AF: 0.354

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

GnomAD4 genome AF: 0.395 AC: 60032 AN: 152052 Hom.: 14613 Cov.: 32 AF XY: 0.393 AC XY: 29235 AN XY: 74340

African (AFR) AF: 0.693 AC: 28718 AN: 41438

American (AMR) AF: 0.308 AC: 4708 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.350 AC: 1213 AN: 3470

East Asian (EAS) AF: 0.241 AC: 1250 AN: 5176

South Asian (SAS) AF: 0.243 AC: 1171 AN: 4822

European-Finnish (FIN) AF: 0.383 AC: 4049 AN: 10578

Middle Eastern (MID) AF: 0.418 AC: 123 AN: 294

European-Non Finnish (NFE) AF: 0.263 AC: 17889 AN: 67970

Other (OTH) AF: 0.350 AC: 739 AN: 2110

Alfa AF: 0.297 Hom.: 32210

Bravo AF: 0.402

Asia WGS AF: 0.268 AC: 933 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.10
DANN	Benign	0.46
PhyloP100		-1.2
PromoterAI		0.00010	Neutral

Splicing

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

Other links and lift over

dbSNP: rs2741335; hg19: chr8-27337791;