rs7927044

Positions:

• chr11-127891771-G-A

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;