rs7624691

Variant names:

• chr3-137144237-T-C
• rs7624691

Your query was ambiguous. Multiple possible variants found:

• chr3-137144237-T-C
• chr3-137144237-T-G

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 0.491 in 152,072 control chromosomes in the GnomAD database, including 18,789 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 0.49 (18789 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.40

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.582 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: 0.491 AC: 74577 AN: 151954 Hom.: 18769 Cov.: 32

Gnomad AFR AF: 0.588

Gnomad AMI AF: 0.277

Gnomad AMR AF: 0.497

Gnomad ASJ AF: 0.510

Gnomad EAS AF: 0.563

Gnomad SAS AF: 0.534

Gnomad FIN AF: 0.451

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.428

Gnomad OTH AF: 0.516

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

GnomAD4 genome AF: 0.491 AC: 74642 AN: 152072 Hom.: 18789 Cov.: 32 AF XY: 0.494 AC XY: 36732 AN XY: 74344

Gnomad4 AFR AF: 0.588

Gnomad4 AMR AF: 0.497

Gnomad4 ASJ AF: 0.510

Gnomad4 EAS AF: 0.562

Gnomad4 SAS AF: 0.535

Gnomad4 FIN AF: 0.451

Gnomad4 NFE AF: 0.428

Gnomad4 OTH AF: 0.510

Alfa AF: 0.439 Hom.: 29564

Bravo AF: 0.498

Asia WGS AF: 0.560 AC: 1944 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.032
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7624691; hg19: chr3-136863079;