rs955427

Variant names:

• chr18-61222840-T-C
• rs955427

Your query was ambiguous. Multiple possible variants found:

• chr18-61222840-T-C
• chr18-61222840-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 0.596 in 151,914 control chromosomes in the GnomAD database, including 28,635 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 0.60 (28635 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.122

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.713 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: 0.597 AC: 90548 AN: 151794 Hom.: 28623 Cov.: 32

Gnomad AFR AF: 0.403

Gnomad AMI AF: 0.759

Gnomad AMR AF: 0.519

Gnomad ASJ AF: 0.593

Gnomad EAS AF: 0.521

Gnomad SAS AF: 0.610

Gnomad FIN AF: 0.704

Gnomad MID AF: 0.538

Gnomad NFE AF: 0.718

Gnomad OTH AF: 0.588

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

GnomAD4 genome AF: 0.596 AC: 90588 AN: 151914 Hom.: 28635 Cov.: 32 AF XY: 0.592 AC XY: 43952 AN XY: 74266

Gnomad4 AFR AF: 0.402

Gnomad4 AMR AF: 0.518

Gnomad4 ASJ AF: 0.593

Gnomad4 EAS AF: 0.521

Gnomad4 SAS AF: 0.610

Gnomad4 FIN AF: 0.704

Gnomad4 NFE AF: 0.718

Gnomad4 OTH AF: 0.592

Alfa AF: 0.683 Hom.: 16636

Bravo AF: 0.571

Asia WGS AF: 0.560 AC: 1950 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.7
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs955427; hg19: chr18-58890073;