rs7395555

Variant names:

• chr11-80347435-G-C
• rs7395555

Your query was ambiguous. Multiple possible variants found:

• 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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;