rs274618

Variant names:

• chr7-86642700-T-A
• rs274618

Your query was ambiguous. Multiple possible variants found:

• chr7-86642700-T-A
• chr7-86642700-T-C
• chr7-86642700-T-G

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 0.702 in 151,966 control chromosomes in the GnomAD database, including 37,857 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 0.70 (37857 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0690
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.858 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: 0.702 AC: 106632 AN: 151848 Hom.: 37794 Cov.: 30

Gnomad AFR AF: 0.748

Gnomad AMI AF: 0.703

Gnomad AMR AF: 0.754

Gnomad ASJ AF: 0.701

Gnomad EAS AF: 0.880

Gnomad SAS AF: 0.855

Gnomad FIN AF: 0.622

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.652

Gnomad OTH AF: 0.689

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

GnomAD4 genome AF: 0.702 AC: 106754 AN: 151966 Hom.: 37857 Cov.: 30 AF XY: 0.705 AC XY: 52387 AN XY: 74278

African (AFR) AF: 0.748 AC: 31008 AN: 41434

American (AMR) AF: 0.754 AC: 11523 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.701 AC: 2431 AN: 3470

East Asian (EAS) AF: 0.879 AC: 4542 AN: 5166

South Asian (SAS) AF: 0.856 AC: 4121 AN: 4816

European-Finnish (FIN) AF: 0.622 AC: 6560 AN: 10548

Middle Eastern (MID) AF: 0.677 AC: 199 AN: 294

European-Non Finnish (NFE) AF: 0.652 AC: 44267 AN: 67938

Other (OTH) AF: 0.694 AC: 1465 AN: 2112

Alfa AF: 0.652 Hom.: 3854

Bravo AF: 0.714

Asia WGS AF: 0.852 AC: 2961 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	3.3
DANN	Benign	0.49
PhyloP100		-0.069

Splicing

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

Other links and lift over

dbSNP: rs274618; hg19: chr7-86272016;