rs7927044

Variant names:

• chr11-127891771-G-A
• rs7927044

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 0.0242 in 152,292 control chromosomes in the GnomAD database, including 114 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 0.024 (114 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0720

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.15 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: 0.0242 AC: 3683 AN: 152174 Hom.: 117 Cov.: 31

Gnomad AFR AF: 0.0333

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0290

Gnomad ASJ AF: 0.0317

Gnomad EAS AF: 0.160

Gnomad SAS AF: 0.00724

Gnomad FIN AF: 0.0221

Gnomad MID AF: 0.0158

Gnomad NFE AF: 0.00848

Gnomad OTH AF: 0.0311

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

GnomAD4 genome AF: 0.0242 AC: 3678 AN: 152292 Hom.: 114 Cov.: 31 AF XY: 0.0248 AC XY: 1848 AN XY: 74476

Gnomad4 AFR AF: 0.0334

Gnomad4 AMR AF: 0.0289

Gnomad4 ASJ AF: 0.0317

Gnomad4 EAS AF: 0.159

Gnomad4 SAS AF: 0.00684

Gnomad4 FIN AF: 0.0221

Gnomad4 NFE AF: 0.00848

Gnomad4 OTH AF: 0.0303

Alfa AF: 0.0126 Hom.: 77

Bravo AF: 0.0276

Asia WGS AF: 0.0700 AC: 244 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.75
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7927044; hg19: chr11-127761666;