rs7161611

Variant names:

• chr14-20363247-C-A
• rs7161611

Your query was ambiguous. Multiple possible variants found:

• chr14-20363247-C-A
• chr14-20363247-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 0.312 in 151,986 control chromosomes in the GnomAD database, including 7,769 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 0.31 (7769 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.834
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.4 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: 0.312 AC: 47308 AN: 151868 Hom.: 7754 Cov.: 32

Gnomad AFR AF: 0.404

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.243

Gnomad ASJ AF: 0.233

Gnomad EAS AF: 0.277

Gnomad SAS AF: 0.379

Gnomad FIN AF: 0.288

Gnomad MID AF: 0.250

Gnomad NFE AF: 0.279

Gnomad OTH AF: 0.287

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

GnomAD4 genome AF: 0.312 AC: 47372 AN: 151986 Hom.: 7769 Cov.: 32 AF XY: 0.310 AC XY: 23022 AN XY: 74280

African (AFR) AF: 0.405 AC: 16773 AN: 41420

American (AMR) AF: 0.243 AC: 3707 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.233 AC: 807 AN: 3468

East Asian (EAS) AF: 0.277 AC: 1434 AN: 5176

South Asian (SAS) AF: 0.379 AC: 1824 AN: 4816

European-Finnish (FIN) AF: 0.288 AC: 3032 AN: 10546

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.279 AC: 18942 AN: 67964

Other (OTH) AF: 0.286 AC: 603 AN: 2108

Alfa AF: 0.267 Hom.: 3027

Bravo AF: 0.310

Asia WGS AF: 0.331 AC: 1153 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.063
DANN	Benign	0.48
PhyloP100		-0.83

Splicing

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

Other links and lift over

dbSNP: rs7161611; hg19: chr14-20831406;