17-7635467-C-A

Variant names:

• chr17-7635467-C-A
• rs2955617

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 0.551 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
• Publications: 23 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.276 AC: 11398 AN: 41322

American (AMR) AF: 0.648 AC: 9849 AN: 15210

Ashkenazi Jewish (ASJ) AF: 0.606 AC: 2100 AN: 3468

East Asian (EAS) AF: 0.503 AC: 2588 AN: 5150

South Asian (SAS) AF: 0.568 AC: 2738 AN: 4818

European-Finnish (FIN) AF: 0.698 AC: 7368 AN: 10560

Middle Eastern (MID) AF: 0.796 AC: 234 AN: 294

European-Non Finnish (NFE) AF: 0.668 AC: 45392 AN: 67926

Other (OTH) AF: 0.593 AC: 1250 AN: 2108

Alfa AF: 0.644 Hom.: 49662

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
PhyloP100		-0.036

Splicing

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

Other links and lift over

dbSNP: rs2955617; hg19: chr17-7538785;