rs895691

Variant names:

• chr17-74770161-C-A
• rs895691

Your query was ambiguous. Multiple possible variants found:

• chr17-74770161-C-A
• chr17-74770161-C-T

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 0.343 in 152,074 control chromosomes in the GnomAD database, including 10,435 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 0.34 (10435 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.345
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.447 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: 0.343 AC: 52076 AN: 151954 Hom.: 10432 Cov.: 33

Gnomad AFR AF: 0.132

Gnomad AMI AF: 0.287

Gnomad AMR AF: 0.349

Gnomad ASJ AF: 0.418

Gnomad EAS AF: 0.271

Gnomad SAS AF: 0.378

Gnomad FIN AF: 0.461

Gnomad MID AF: 0.328

Gnomad NFE AF: 0.451

Gnomad OTH AF: 0.344

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

GnomAD4 genome AF: 0.343 AC: 52102 AN: 152074 Hom.: 10435 Cov.: 33 AF XY: 0.344 AC XY: 25553 AN XY: 74330

African (AFR) AF: 0.132 AC: 5485 AN: 41494

American (AMR) AF: 0.349 AC: 5330 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.418 AC: 1451 AN: 3470

East Asian (EAS) AF: 0.271 AC: 1401 AN: 5170

South Asian (SAS) AF: 0.378 AC: 1822 AN: 4824

European-Finnish (FIN) AF: 0.461 AC: 4875 AN: 10584

Middle Eastern (MID) AF: 0.323 AC: 95 AN: 294

European-Non Finnish (NFE) AF: 0.451 AC: 30647 AN: 67936

Other (OTH) AF: 0.348 AC: 735 AN: 2110

Alfa AF: 0.362 Hom.: 3763

Bravo AF: 0.326

Asia WGS AF: 0.308 AC: 1075 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	6.4
DANN	Benign	0.64
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs895691; hg19: chr17-72766300;