rs918980

Variant names:

• chr7-37562295-G-A
• rs918980

Your query was ambiguous. Multiple possible variants found:

• chr7-37562295-G-A
• chr7-37562295-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 0.482 in 152,000 control chromosomes in the GnomAD database, including 17,895 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 0.48 (17895 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.35

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.543 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: 0.482 AC: 73176 AN: 151882 Hom.: 17890 Cov.: 32

Gnomad AFR AF: 0.549

Gnomad AMI AF: 0.520

Gnomad AMR AF: 0.459

Gnomad ASJ AF: 0.467

Gnomad EAS AF: 0.364

Gnomad SAS AF: 0.380

Gnomad FIN AF: 0.501

Gnomad MID AF: 0.481

Gnomad NFE AF: 0.459

Gnomad OTH AF: 0.487

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

GnomAD4 genome AF: 0.482 AC: 73222 AN: 152000 Hom.: 17895 Cov.: 32 AF XY: 0.482 AC XY: 35819 AN XY: 74300

Gnomad4 AFR AF: 0.549

Gnomad4 AMR AF: 0.459

Gnomad4 ASJ AF: 0.467

Gnomad4 EAS AF: 0.363

Gnomad4 SAS AF: 0.380

Gnomad4 FIN AF: 0.501

Gnomad4 NFE AF: 0.459

Gnomad4 OTH AF: 0.484

Alfa AF: 0.456 Hom.: 7171

Bravo AF: 0.483

Asia WGS AF: 0.380 AC: 1320 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	3.9
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs918980; hg19: chr7-37601898;