rs1634330

Variant names:

• chr17-43761701-T-C
• rs1634330

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 0.631 in 152,206 control chromosomes in the GnomAD database, including 30,681 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 0.63 (30681 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.03
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.647 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: 0.631 AC: 96012 AN: 152088 Hom.: 30640 Cov.: 34

Gnomad AFR AF: 0.646

Gnomad AMI AF: 0.581

Gnomad AMR AF: 0.569

Gnomad ASJ AF: 0.622

Gnomad EAS AF: 0.350

Gnomad SAS AF: 0.665

Gnomad FIN AF: 0.749

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.639

Gnomad OTH AF: 0.600

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

GnomAD4 genome AF: 0.631 AC: 96108 AN: 152206 Hom.: 30681 Cov.: 34 AF XY: 0.635 AC XY: 47231 AN XY: 74406

African (AFR) AF: 0.647 AC: 26855 AN: 41514

American (AMR) AF: 0.568 AC: 8685 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.622 AC: 2160 AN: 3472

East Asian (EAS) AF: 0.350 AC: 1811 AN: 5174

South Asian (SAS) AF: 0.666 AC: 3215 AN: 4826

European-Finnish (FIN) AF: 0.749 AC: 7942 AN: 10600

Middle Eastern (MID) AF: 0.578 AC: 170 AN: 294

European-Non Finnish (NFE) AF: 0.639 AC: 43471 AN: 68012

Other (OTH) AF: 0.603 AC: 1273 AN: 2112

Alfa AF: 0.643 Hom.: 7121

Bravo AF: 0.613

Asia WGS AF: 0.524 AC: 1822 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	4.1
DANN	Benign	0.34
PhyloP100		1.0

Splicing

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

Other links and lift over

dbSNP: rs1634330; hg19: chr17-41839069;