rs208684

Variant names:

• chr7-155814463-C-A
• rs208684

Your query was ambiguous. Multiple possible variants found:

• chr7-155814463-C-A
• chr7-155814463-C-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 0.747 in 151,970 control chromosomes in the GnomAD database, including 42,437 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 0.75 (42437 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.57
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.77 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: 0.746 AC: 113342 AN: 151852 Hom.: 42382 Cov.: 33

Gnomad AFR AF: 0.716

Gnomad AMI AF: 0.843

Gnomad AMR AF: 0.760

Gnomad ASJ AF: 0.713

Gnomad EAS AF: 0.760

Gnomad SAS AF: 0.791

Gnomad FIN AF: 0.751

Gnomad MID AF: 0.680

Gnomad NFE AF: 0.759

Gnomad OTH AF: 0.716

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

GnomAD4 genome AF: 0.747 AC: 113456 AN: 151970 Hom.: 42437 Cov.: 33 AF XY: 0.745 AC XY: 55341 AN XY: 74246

African (AFR) AF: 0.716 AC: 29691 AN: 41446

American (AMR) AF: 0.760 AC: 11626 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.713 AC: 2472 AN: 3468

East Asian (EAS) AF: 0.760 AC: 3904 AN: 5140

South Asian (SAS) AF: 0.791 AC: 3809 AN: 4816

European-Finnish (FIN) AF: 0.751 AC: 7929 AN: 10560

Middle Eastern (MID) AF: 0.673 AC: 198 AN: 294

European-Non Finnish (NFE) AF: 0.759 AC: 51544 AN: 67934

Other (OTH) AF: 0.719 AC: 1518 AN: 2112

Alfa AF: 0.751 Hom.: 11202

Bravo AF: 0.746

Asia WGS AF: 0.768 AC: 2672 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.36
DANN	Benign	0.43
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs208684; hg19: chr7-155607157;