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. The variant received -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
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0604 AC: 2508 AN: 41508

American (AMR) AF: 0.172 AC: 2621 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.137 AC: 476 AN: 3468

East Asian (EAS) AF: 0.121 AC: 622 AN: 5146

South Asian (SAS) AF: 0.230 AC: 1109 AN: 4822

European-Finnish (FIN) AF: 0.258 AC: 2719 AN: 10546

Middle Eastern (MID) AF: 0.170 AC: 50 AN: 294

European-Non Finnish (NFE) AF: 0.198 AC: 13447 AN: 67980

Other (OTH) AF: 0.158 AC: 334 AN: 2114

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
PhyloP100		0.51

Splicing

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

Other links and lift over

dbSNP: rs7395555; hg19: chr11-80058479;