rs288746

Variant names:

• chr7-155813978-G-A
• rs288746

Your query was ambiguous. Multiple possible variants found:

• chr7-155813978-G-A
• chr7-155813978-G-C
• chr7-155813978-G-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 0.873 in 152,108 control chromosomes in the GnomAD database, including 58,089 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 0.87 (58089 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.41

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 (EAS) allele frequency at 95% confidence interval = 0.959 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: 0.873 AC: 132646 AN: 151992 Hom.: 58031 Cov.: 30

Gnomad AFR AF: 0.839

Gnomad AMI AF: 0.984

Gnomad AMR AF: 0.879

Gnomad ASJ AF: 0.879

Gnomad EAS AF: 0.982

Gnomad SAS AF: 0.924

Gnomad FIN AF: 0.870

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.880

Gnomad OTH AF: 0.861

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

GnomAD4 genome AF: 0.873 AC: 132764 AN: 152108 Hom.: 58089 Cov.: 30 AF XY: 0.873 AC XY: 64909 AN XY: 74352

Gnomad4 AFR AF: 0.839

Gnomad4 AMR AF: 0.879

Gnomad4 ASJ AF: 0.879

Gnomad4 EAS AF: 0.982

Gnomad4 SAS AF: 0.924

Gnomad4 FIN AF: 0.870

Gnomad4 NFE AF: 0.880

Gnomad4 OTH AF: 0.863

Alfa AF: 0.874 Hom.: 80058

Bravo AF: 0.872

Asia WGS AF: 0.944 AC: 3282 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	0.066
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs288746; hg19: chr7-155606672;