rs951327

Variant names:

• chr3-176905130-T-C
• rs951327

Your query was ambiguous. Multiple possible variants found:

• chr3-176905130-T-C
• chr3-176905130-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 0.41 in 152,024 control chromosomes in the GnomAD database, including 13,316 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 0.41 (13316 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.681

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.469 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: 0.410 AC: 62257 AN: 151908 Hom.: 13328 Cov.: 32

Gnomad AFR AF: 0.271

Gnomad AMI AF: 0.373

Gnomad AMR AF: 0.379

Gnomad ASJ AF: 0.495

Gnomad EAS AF: 0.423

Gnomad SAS AF: 0.450

Gnomad FIN AF: 0.542

Gnomad MID AF: 0.363

Gnomad NFE AF: 0.473

Gnomad OTH AF: 0.417

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

GnomAD4 genome AF: 0.410 AC: 62260 AN: 152024 Hom.: 13316 Cov.: 32 AF XY: 0.411 AC XY: 30542 AN XY: 74342

Gnomad4 AFR AF: 0.271

Gnomad4 AMR AF: 0.379

Gnomad4 ASJ AF: 0.495

Gnomad4 EAS AF: 0.423

Gnomad4 SAS AF: 0.449

Gnomad4 FIN AF: 0.542

Gnomad4 NFE AF: 0.473

Gnomad4 OTH AF: 0.414

Alfa AF: 0.432 Hom.: 6176

Bravo AF: 0.391

Asia WGS AF: 0.436 AC: 1508 AN: 3460

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	7.6
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs951327; hg19: chr3-176622918;