rs7451962

Variant names:

• chr6-32614658-G-A
• rs7451962

Your query was ambiguous. Multiple possible variants found:

• chr6-32614658-G-A
• chr6-32614658-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 0.435 in 151,020 control chromosomes in the GnomAD database, including 14,831 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 0.43 (14831 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.21
• Publications: 15 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.492 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: 0.435 AC: 65641 AN: 150902 Hom.: 14826 Cov.: 30

Gnomad AFR AF: 0.497

Gnomad AMI AF: 0.422

Gnomad AMR AF: 0.389

Gnomad ASJ AF: 0.446

Gnomad EAS AF: 0.421

Gnomad SAS AF: 0.505

Gnomad FIN AF: 0.277

Gnomad MID AF: 0.638

Gnomad NFE AF: 0.426

Gnomad OTH AF: 0.479

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

GnomAD4 genome AF: 0.435 AC: 65676 AN: 151020 Hom.: 14831 Cov.: 30 AF XY: 0.428 AC XY: 31568 AN XY: 73800

African (AFR) AF: 0.497 AC: 20444 AN: 41114

American (AMR) AF: 0.388 AC: 5898 AN: 15204

Ashkenazi Jewish (ASJ) AF: 0.446 AC: 1545 AN: 3462

East Asian (EAS) AF: 0.420 AC: 2160 AN: 5138

South Asian (SAS) AF: 0.505 AC: 2405 AN: 4762

European-Finnish (FIN) AF: 0.277 AC: 2910 AN: 10498

Middle Eastern (MID) AF: 0.621 AC: 180 AN: 290

European-Non Finnish (NFE) AF: 0.426 AC: 28752 AN: 67550

Other (OTH) AF: 0.477 AC: 999 AN: 2094

Alfa AF: 0.433 Hom.: 1776

Bravo AF: 0.447

Asia WGS AF: 0.396 AC: 1380 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.36
DANN	Benign	0.48
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs7451962; hg19: chr6-32582435;