rs173218

Variant names:

• chr4-102101892-T-C
• rs173218

Your query was ambiguous. Multiple possible variants found:

• chr4-102101892-T-C
• chr4-102101892-T-G

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 0.765 in 151,968 control chromosomes in the GnomAD database, including 44,880 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 0.76 (44880 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0790

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 = 0.813 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: 0.765 AC: 116158 AN: 151844 Hom.: 44853 Cov.: 32

Gnomad AFR AF: 0.682

Gnomad AMI AF: 0.798

Gnomad AMR AF: 0.711

Gnomad ASJ AF: 0.742

Gnomad EAS AF: 0.687

Gnomad SAS AF: 0.824

Gnomad FIN AF: 0.839

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.819

Gnomad OTH AF: 0.752

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

GnomAD4 genome AF: 0.765 AC: 116237 AN: 151968 Hom.: 44880 Cov.: 32 AF XY: 0.763 AC XY: 56671 AN XY: 74296

Gnomad4 AFR AF: 0.682

Gnomad4 AMR AF: 0.712

Gnomad4 ASJ AF: 0.742

Gnomad4 EAS AF: 0.686

Gnomad4 SAS AF: 0.823

Gnomad4 FIN AF: 0.839

Gnomad4 NFE AF: 0.819

Gnomad4 OTH AF: 0.749

Alfa AF: 0.811 Hom.: 24974

Bravo AF: 0.749

Asia WGS AF: 0.733 AC: 2547 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.2
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs173218; hg19: chr4-103023049;