rs2955617

Positions:

• chr17-7635467-C-A
• chr17-7635467-C-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 0.551 in 151,768 control chromosomes in the GnomAD database, including 25,502 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 0.55 (25502 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0360

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.56).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.663 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.551 AC: 83564 AN: 151650 Hom.: 25501 Cov.: 29

Gnomad AFR AF: 0.276

Gnomad AMI AF: 0.738

Gnomad AMR AF: 0.648

Gnomad ASJ AF: 0.606

Gnomad EAS AF: 0.503

Gnomad SAS AF: 0.568

Gnomad FIN AF: 0.698

Gnomad MID AF: 0.794

Gnomad NFE AF: 0.668

Gnomad OTH AF: 0.598

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

GnomAD4 genome AF: 0.551 AC: 83590 AN: 151768 Hom.: 25502 Cov.: 29 AF XY: 0.555 AC XY: 41131 AN XY: 74166

Gnomad4 AFR AF: 0.276

Gnomad4 AMR AF: 0.648

Gnomad4 ASJ AF: 0.606

Gnomad4 EAS AF: 0.503

Gnomad4 SAS AF: 0.568

Gnomad4 FIN AF: 0.698

Gnomad4 NFE AF: 0.668

Gnomad4 OTH AF: 0.593

Alfa AF: 0.648 Hom.: 41817

Bravo AF: 0.535

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.56
CADD	Benign	4.5
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2955617; hg19: chr17-7538785;