chr11-27273724-G-C

Variant names:

• chr11-27273724-G-C
• rs11029907

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 0.302 in 151,942 control chromosomes in the GnomAD database, including 7,911 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 0.30 (7911 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.365
• Publications: 3 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 (NFE) allele frequency at 95% confidence interval = 0.394 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: 0.302 AC: 45882 AN: 151824 Hom.: 7903 Cov.: 31

Gnomad AFR AF: 0.179

Gnomad AMI AF: 0.535

Gnomad AMR AF: 0.306

Gnomad ASJ AF: 0.311

Gnomad EAS AF: 0.0364

Gnomad SAS AF: 0.212

Gnomad FIN AF: 0.308

Gnomad MID AF: 0.323

Gnomad NFE AF: 0.398

Gnomad OTH AF: 0.314

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

GnomAD4 genome AF: 0.302 AC: 45898 AN: 151942 Hom.: 7911 Cov.: 31 AF XY: 0.296 AC XY: 21943 AN XY: 74256

African (AFR) AF: 0.179 AC: 7399 AN: 41442

American (AMR) AF: 0.306 AC: 4678 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.311 AC: 1077 AN: 3468

East Asian (EAS) AF: 0.0363 AC: 187 AN: 5146

South Asian (SAS) AF: 0.213 AC: 1027 AN: 4816

European-Finnish (FIN) AF: 0.308 AC: 3256 AN: 10560

Middle Eastern (MID) AF: 0.337 AC: 99 AN: 294

European-Non Finnish (NFE) AF: 0.398 AC: 27023 AN: 67928

Other (OTH) AF: 0.316 AC: 666 AN: 2110

Alfa AF: 0.259 Hom.: 798

Bravo AF: 0.298

Asia WGS AF: 0.164 AC: 573 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	2.4
DANN	Benign	0.38
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs11029907; hg19: chr11-27295271;