rs993183

Variant names:

• chr7-46631145-A-G
• rs993183

Your query was ambiguous. Multiple possible variants found:

• chr7-46631145-A-G
• chr7-46631145-A-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 0.458 in 151,912 control chromosomes in the GnomAD database, including 16,477 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 0.46 (16477 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.876

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.571 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: 0.458 AC: 69484 AN: 151794 Hom.: 16475 Cov.: 32

Gnomad AFR AF: 0.357

Gnomad AMI AF: 0.546

Gnomad AMR AF: 0.581

Gnomad ASJ AF: 0.509

Gnomad EAS AF: 0.462

Gnomad SAS AF: 0.293

Gnomad FIN AF: 0.393

Gnomad MID AF: 0.522

Gnomad NFE AF: 0.507

Gnomad OTH AF: 0.511

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

GnomAD4 genome AF: 0.458 AC: 69505 AN: 151912 Hom.: 16477 Cov.: 32 AF XY: 0.452 AC XY: 33594 AN XY: 74244

Gnomad4 AFR AF: 0.356

Gnomad4 AMR AF: 0.581

Gnomad4 ASJ AF: 0.509

Gnomad4 EAS AF: 0.462

Gnomad4 SAS AF: 0.293

Gnomad4 FIN AF: 0.393

Gnomad4 NFE AF: 0.507

Gnomad4 OTH AF: 0.504

Alfa AF: 0.500 Hom.: 37934

Bravo AF: 0.473

Asia WGS AF: 0.359 AC: 1241 AN: 3456

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.9
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs993183; hg19: chr7-46670743;