rs1634330

Positions:

• chr17-43761701-T-C

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 0.631 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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

Gnomad4 AFR AF: 0.647

Gnomad4 AMR AF: 0.568

Gnomad4 ASJ AF: 0.622

Gnomad4 EAS AF: 0.350

Gnomad4 SAS AF: 0.666

Gnomad4 FIN AF: 0.749

Gnomad4 NFE AF: 0.639

Gnomad4 OTH AF: 0.603

Alfa AF: 0.643 Hom.: 6961

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1634330; hg19: chr17-41839069;