chr17-7635467-C-A

Variant names:

• chr17-7635467-C-A
• rs2955617

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;