rs1107617

Variant names:

• chr7-55212575-A-C
• rs1107617

Your query was ambiguous. Multiple possible variants found:

• chr7-55212575-A-C
• chr7-55212575-A-G

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 0.135 in 152,270 control chromosomes in the GnomAD database, including 1,918 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 0.13 (1918 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.504

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.454 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: 0.135 AC: 20487 AN: 152152 Hom.: 1913 Cov.: 34

Gnomad AFR AF: 0.181

Gnomad AMI AF: 0.107

Gnomad AMR AF: 0.114

Gnomad ASJ AF: 0.0807

Gnomad EAS AF: 0.469

Gnomad SAS AF: 0.201

Gnomad FIN AF: 0.0964

Gnomad MID AF: 0.136

Gnomad NFE AF: 0.0902

Gnomad OTH AF: 0.134

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

GnomAD4 genome AF: 0.135 AC: 20521 AN: 152270 Hom.: 1918 Cov.: 34 AF XY: 0.138 AC XY: 10278 AN XY: 74454

Gnomad4 AFR AF: 0.181

Gnomad4 AMR AF: 0.114

Gnomad4 ASJ AF: 0.0807

Gnomad4 EAS AF: 0.469

Gnomad4 SAS AF: 0.200

Gnomad4 FIN AF: 0.0964

Gnomad4 NFE AF: 0.0902

Gnomad4 OTH AF: 0.134

Alfa AF: 0.103 Hom.: 1172

Bravo AF: 0.142

Asia WGS AF: 0.282 AC: 984 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.3
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1107617; hg19: chr7-55280268;