rs945131

Variant names:

• chr6-43748257-A-G
• rs945131

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 0.443 in 152,160 control chromosomes in the GnomAD database, including 15,467 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 0.44 (15467 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.190

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 (NFE) allele frequency at 95% confidence interval = 0.505 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: 0.443 AC: 67354 AN: 152042 Hom.: 15458 Cov.: 33

Gnomad AFR AF: 0.361

Gnomad AMI AF: 0.592

Gnomad AMR AF: 0.353

Gnomad ASJ AF: 0.608

Gnomad EAS AF: 0.243

Gnomad SAS AF: 0.437

Gnomad FIN AF: 0.499

Gnomad MID AF: 0.538

Gnomad NFE AF: 0.509

Gnomad OTH AF: 0.443

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

GnomAD4 genome AF: 0.443 AC: 67399 AN: 152160 Hom.: 15467 Cov.: 33 AF XY: 0.437 AC XY: 32532 AN XY: 74386

Gnomad4 AFR AF: 0.361

Gnomad4 AMR AF: 0.353

Gnomad4 ASJ AF: 0.608

Gnomad4 EAS AF: 0.243

Gnomad4 SAS AF: 0.438

Gnomad4 FIN AF: 0.499

Gnomad4 NFE AF: 0.509

Gnomad4 OTH AF: 0.440

Alfa AF: 0.494 Hom.: 40065

Bravo AF: 0.429

Asia WGS AF: 0.342 AC: 1189 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.25
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs945131; hg19: chr6-43715994;