rs1730186

Positions:

• chr7-155097474-A-G
• chr7-155097474-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 0.683 in 151,304 control chromosomes in the GnomAD database, including 35,923 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 0.68 (35923 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.226

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 (AFR) allele frequency at 95% confidence interval = 0.798 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.683 AC: 103227 AN: 151186 Hom.: 35887 Cov.: 31

Gnomad AFR AF: 0.805

Gnomad AMI AF: 0.557

Gnomad AMR AF: 0.666

Gnomad ASJ AF: 0.648

Gnomad EAS AF: 0.622

Gnomad SAS AF: 0.639

Gnomad FIN AF: 0.579

Gnomad MID AF: 0.649

Gnomad NFE AF: 0.641

Gnomad OTH AF: 0.674

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

GnomAD4 genome AF: 0.683 AC: 103307 AN: 151304 Hom.: 35923 Cov.: 31 AF XY: 0.680 AC XY: 50281 AN XY: 73976

Gnomad4 AFR AF: 0.805

Gnomad4 AMR AF: 0.666

Gnomad4 ASJ AF: 0.648

Gnomad4 EAS AF: 0.623

Gnomad4 SAS AF: 0.639

Gnomad4 FIN AF: 0.579

Gnomad4 NFE AF: 0.641

Gnomad4 OTH AF: 0.666

Alfa AF: 0.641 Hom.: 53299

Bravo AF: 0.694

Asia WGS AF: 0.599 AC: 2085 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	8.8
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1730186; hg19: chr7-154889184;