rs7395555

Positions:

• chr11-80347435-G-C
• chr11-80347435-G-T

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 0.158 in 152,036 control chromosomes in the GnomAD database, including 2,259 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 0.16 (2259 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.506

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.219 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: 0.158 AC: 24005 AN: 151918 Hom.: 2257 Cov.: 32

Gnomad AFR AF: 0.0606

Gnomad AMI AF: 0.150

Gnomad AMR AF: 0.172

Gnomad ASJ AF: 0.137

Gnomad EAS AF: 0.121

Gnomad SAS AF: 0.229

Gnomad FIN AF: 0.258

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.198

Gnomad OTH AF: 0.152

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

GnomAD4 genome AF: 0.158 AC: 24023 AN: 152036 Hom.: 2259 Cov.: 32 AF XY: 0.160 AC XY: 11915 AN XY: 74298

Gnomad4 AFR AF: 0.0604

Gnomad4 AMR AF: 0.172

Gnomad4 ASJ AF: 0.137

Gnomad4 EAS AF: 0.121

Gnomad4 SAS AF: 0.230

Gnomad4 FIN AF: 0.258

Gnomad4 NFE AF: 0.198

Gnomad4 OTH AF: 0.158

Alfa AF: 0.0954 Hom.: 143

Bravo AF: 0.144

Asia WGS AF: 0.202 AC: 702 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	2.4
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7395555; hg19: chr11-80058479;