rs1498637

Variant names:

• chr6-155727330-G-A
• rs1498637

Your query was ambiguous. Multiple possible variants found:

• chr6-155727330-G-A
• chr6-155727330-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.413 in 151,448 control chromosomes in the GnomAD database, including 13,234 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 0.41 (13234 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.11
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.47 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: 0.413 AC: 62521 AN: 151330 Hom.: 13222 Cov.: 32

Gnomad AFR AF: 0.320

Gnomad AMI AF: 0.486

Gnomad AMR AF: 0.478

Gnomad ASJ AF: 0.444

Gnomad EAS AF: 0.390

Gnomad SAS AF: 0.464

Gnomad FIN AF: 0.539

Gnomad MID AF: 0.357

Gnomad NFE AF: 0.432

Gnomad OTH AF: 0.407

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

GnomAD4 genome AF: 0.413 AC: 62545 AN: 151448 Hom.: 13234 Cov.: 32 AF XY: 0.420 AC XY: 31091 AN XY: 73994

African (AFR) AF: 0.319 AC: 13186 AN: 41352

American (AMR) AF: 0.479 AC: 7282 AN: 15206

Ashkenazi Jewish (ASJ) AF: 0.444 AC: 1536 AN: 3456

East Asian (EAS) AF: 0.389 AC: 2001 AN: 5146

South Asian (SAS) AF: 0.466 AC: 2235 AN: 4798

European-Finnish (FIN) AF: 0.539 AC: 5629 AN: 10452

Middle Eastern (MID) AF: 0.363 AC: 106 AN: 292

European-Non Finnish (NFE) AF: 0.432 AC: 29279 AN: 67732

Other (OTH) AF: 0.403 AC: 848 AN: 2102

Alfa AF: 0.353 Hom.: 1369

Bravo AF: 0.403

Asia WGS AF: 0.392 AC: 1347 AN: 3444

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.12
DANN	Benign	0.62
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs1498637; hg19: chr6-156048464;