rs2693737

Variant names:

• chr7-129791154-G-A
• rs2693737

Your query was ambiguous. Multiple possible variants found:

• chr7-129791154-G-A
• chr7-129791154-G-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 0.911 in 152,232 control chromosomes in the GnomAD database, including 63,320 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 0.91 (63320 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.30

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.952 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: 0.911 AC: 138647 AN: 152114 Hom.: 63267 Cov.: 31

Gnomad AFR AF: 0.882

Gnomad AMI AF: 0.955

Gnomad AMR AF: 0.936

Gnomad ASJ AF: 0.976

Gnomad EAS AF: 0.968

Gnomad SAS AF: 0.975

Gnomad FIN AF: 0.906

Gnomad MID AF: 0.905

Gnomad NFE AF: 0.912

Gnomad OTH AF: 0.916

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

GnomAD4 genome AF: 0.911 AC: 138757 AN: 152232 Hom.: 63320 Cov.: 31 AF XY: 0.914 AC XY: 67979 AN XY: 74404

Gnomad4 AFR AF: 0.882

Gnomad4 AMR AF: 0.936

Gnomad4 ASJ AF: 0.976

Gnomad4 EAS AF: 0.968

Gnomad4 SAS AF: 0.976

Gnomad4 FIN AF: 0.906

Gnomad4 NFE AF: 0.912

Gnomad4 OTH AF: 0.917

Alfa AF: 0.914 Hom.: 92668

Bravo AF: 0.913

Asia WGS AF: 0.971 AC: 3378 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.0070
DANN	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2693737; hg19: chr7-129430994;