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. The variant received -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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.402 AC: 16667 AN: 41426

American (AMR) AF: 0.518 AC: 7904 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.593 AC: 2058 AN: 3470

East Asian (EAS) AF: 0.521 AC: 2674 AN: 5134

South Asian (SAS) AF: 0.610 AC: 2941 AN: 4818

European-Finnish (FIN) AF: 0.704 AC: 7437 AN: 10570

Middle Eastern (MID) AF: 0.548 AC: 160 AN: 292

European-Non Finnish (NFE) AF: 0.718 AC: 48809 AN: 67936

Other (OTH) AF: 0.592 AC: 1249 AN: 2110

Alfa AF: 0.684 Hom.: 18488

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
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs955427; hg19: chr18-58890073;