rs1362155

Variant names:

• chr7-111617442-A-C
• rs1362155

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 0.104 in 151,894 control chromosomes in the GnomAD database, including 970 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 0.10 (970 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.264
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.127 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: 0.104 AC: 15772 AN: 151776 Hom.: 969 Cov.: 30

Gnomad AFR AF: 0.130

Gnomad AMI AF: 0.174

Gnomad AMR AF: 0.0731

Gnomad ASJ AF: 0.101

Gnomad EAS AF: 0.000771

Gnomad SAS AF: 0.0252

Gnomad FIN AF: 0.0931

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.109

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.104 AC: 15780 AN: 151894 Hom.: 970 Cov.: 30 AF XY: 0.0998 AC XY: 7410 AN XY: 74250

African (AFR) AF: 0.130 AC: 5393 AN: 41396

American (AMR) AF: 0.0728 AC: 1110 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.101 AC: 351 AN: 3468

East Asian (EAS) AF: 0.000772 AC: 4 AN: 5178

South Asian (SAS) AF: 0.0250 AC: 120 AN: 4796

European-Finnish (FIN) AF: 0.0931 AC: 981 AN: 10542

Middle Eastern (MID) AF: 0.119 AC: 35 AN: 294

European-Non Finnish (NFE) AF: 0.109 AC: 7390 AN: 67960

Other (OTH) AF: 0.113 AC: 238 AN: 2114

Alfa AF: 0.103 Hom.: 362

Bravo AF: 0.105

Asia WGS AF: 0.0190 AC: 67 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	6.8
DANN	Benign	0.76
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs1362155; hg19: chr7-111257498;