5-71451743-G-C

Variant names:

• chr5-71451743-G-C
• rs7447545

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 0.384 in 151,954 control chromosomes in the GnomAD database, including 12,090 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 0.38 (12090 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.352

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.458 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: 0.385 AC: 58383 AN: 151836 Hom.: 12094 Cov.: 31

Gnomad AFR AF: 0.242

Gnomad AMI AF: 0.644

Gnomad AMR AF: 0.313

Gnomad ASJ AF: 0.447

Gnomad EAS AF: 0.353

Gnomad SAS AF: 0.474

Gnomad FIN AF: 0.493

Gnomad MID AF: 0.418

Gnomad NFE AF: 0.459

Gnomad OTH AF: 0.403

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

GnomAD4 genome AF: 0.384 AC: 58394 AN: 151954 Hom.: 12090 Cov.: 31 AF XY: 0.387 AC XY: 28739 AN XY: 74258

Gnomad4 AFR AF: 0.242

Gnomad4 AMR AF: 0.313

Gnomad4 ASJ AF: 0.447

Gnomad4 EAS AF: 0.352

Gnomad4 SAS AF: 0.474

Gnomad4 FIN AF: 0.493

Gnomad4 NFE AF: 0.459

Gnomad4 OTH AF: 0.402

Alfa AF: 0.266 Hom.: 673

Bravo AF: 0.361

Asia WGS AF: 0.401 AC: 1398 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	6.2
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7447545; hg19: chr5-70747570;