rs955612

Variant names:

• chr1-234580847-C-A
• rs955612

Your query was ambiguous. Multiple possible variants found:

• chr1-234580847-C-A
• chr1-234580847-C-T

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 0.321 in 152,052 control chromosomes in the GnomAD database, including 8,406 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 0.32 (8406 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.714

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.424 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: 0.321 AC: 48786 AN: 151934 Hom.: 8394 Cov.: 33

Gnomad AFR AF: 0.430

Gnomad AMI AF: 0.191

Gnomad AMR AF: 0.200

Gnomad ASJ AF: 0.172

Gnomad EAS AF: 0.249

Gnomad SAS AF: 0.209

Gnomad FIN AF: 0.357

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.301

Gnomad OTH AF: 0.290

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

GnomAD4 genome AF: 0.321 AC: 48833 AN: 152052 Hom.: 8406 Cov.: 33 AF XY: 0.317 AC XY: 23592 AN XY: 74336

Gnomad4 AFR AF: 0.430

Gnomad4 AMR AF: 0.200

Gnomad4 ASJ AF: 0.172

Gnomad4 EAS AF: 0.249

Gnomad4 SAS AF: 0.210

Gnomad4 FIN AF: 0.357

Gnomad4 NFE AF: 0.301

Gnomad4 OTH AF: 0.287

Alfa AF: 0.289 Hom.: 13211

Bravo AF: 0.314

Asia WGS AF: 0.272 AC: 944 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.14
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs955612; hg19: chr1-234716593;