rs2077955

Variant names:

• chr11-72498016-G-A
• rs2077955

Your query was ambiguous. Multiple possible variants found:

• chr11-72498016-G-A
• chr11-72498016-G-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 0.35 in 151,986 control chromosomes in the GnomAD database, including 10,209 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 0.35 (10209 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.133
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.55).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.514 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: 0.350 AC: 53107 AN: 151868 Hom.: 10197 Cov.: 32

Gnomad AFR AF: 0.520

Gnomad AMI AF: 0.287

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.305

Gnomad EAS AF: 0.363

Gnomad SAS AF: 0.275

Gnomad FIN AF: 0.242

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.293

Gnomad OTH AF: 0.319

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

GnomAD4 genome AF: 0.350 AC: 53161 AN: 151986 Hom.: 10209 Cov.: 32 AF XY: 0.347 AC XY: 25799 AN XY: 74294

African (AFR) AF: 0.520 AC: 21540 AN: 41424

American (AMR) AF: 0.256 AC: 3907 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.305 AC: 1057 AN: 3468

East Asian (EAS) AF: 0.363 AC: 1872 AN: 5156

South Asian (SAS) AF: 0.275 AC: 1327 AN: 4820

European-Finnish (FIN) AF: 0.242 AC: 2556 AN: 10552

Middle Eastern (MID) AF: 0.299 AC: 88 AN: 294

European-Non Finnish (NFE) AF: 0.293 AC: 19886 AN: 67970

Other (OTH) AF: 0.316 AC: 667 AN: 2110

Alfa AF: 0.311 Hom.: 26951

Bravo AF: 0.358

Asia WGS AF: 0.310 AC: 1078 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	13
DANN	Benign	0.85
PhyloP100		-0.13

Splicing

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

Other links and lift over

dbSNP: rs2077955; hg19: chr11-72209060;