rs854571

Positions:

• chr7-95325307-T-C

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 0.624 in 152,038 control chromosomes in the GnomAD database, including 30,952 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 0.62 (30952 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.102

ACMG classification

Verdict is Benign. Variant got -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 = 0.705 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.624 AC: 94841 AN: 151922 Hom.: 30934 Cov.: 32

Gnomad AFR AF: 0.416

Gnomad AMI AF: 0.773

Gnomad AMR AF: 0.673

Gnomad ASJ AF: 0.765

Gnomad EAS AF: 0.707

Gnomad SAS AF: 0.608

Gnomad FIN AF: 0.710

Gnomad MID AF: 0.722

Gnomad NFE AF: 0.710

Gnomad OTH AF: 0.675

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

GnomAD4 genome AF: 0.624 AC: 94900 AN: 152038 Hom.: 30952 Cov.: 32 AF XY: 0.628 AC XY: 46697 AN XY: 74348

Gnomad4 AFR AF: 0.416

Gnomad4 AMR AF: 0.673

Gnomad4 ASJ AF: 0.765

Gnomad4 EAS AF: 0.707

Gnomad4 SAS AF: 0.610

Gnomad4 FIN AF: 0.710

Gnomad4 NFE AF: 0.710

Gnomad4 OTH AF: 0.680

Alfa AF: 0.697 Hom.: 56692

Bravo AF: 0.615

Asia WGS AF: 0.664 AC: 2313 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.91
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: rs854571; hg19: chr7-94954619;