rs1818976

Variant names:

• chr19-24247689-G-C
• rs1818976

Your query was ambiguous. Multiple possible variants found:

• chr19-24247689-G-C
• chr19-24247689-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 0.14 in 151,516 control chromosomes in the GnomAD database, including 2,385 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 0.14 (2385 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.308 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.140 AC: 21145 AN: 151398 Hom.: 2378 Cov.: 32

Gnomad AFR AF: 0.313

Gnomad AMI AF: 0.0461

Gnomad AMR AF: 0.142

Gnomad ASJ AF: 0.0656

Gnomad EAS AF: 0.0949

Gnomad SAS AF: 0.105

Gnomad FIN AF: 0.0592

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.0579

Gnomad OTH AF: 0.126

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

GnomAD4 genome AF: 0.140 AC: 21189 AN: 151516 Hom.: 2385 Cov.: 32 AF XY: 0.139 AC XY: 10266 AN XY: 74028

African (AFR) AF: 0.313 AC: 12931 AN: 41334

American (AMR) AF: 0.141 AC: 2144 AN: 15174

Ashkenazi Jewish (ASJ) AF: 0.0656 AC: 227 AN: 3460

East Asian (EAS) AF: 0.0949 AC: 485 AN: 5108

South Asian (SAS) AF: 0.105 AC: 508 AN: 4816

European-Finnish (FIN) AF: 0.0592 AC: 627 AN: 10592

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 294

European-Non Finnish (NFE) AF: 0.0579 AC: 3922 AN: 67722

Other (OTH) AF: 0.128 AC: 269 AN: 2104

Alfa AF: 0.0298 Hom.: 24

Bravo AF: 0.155

Asia WGS AF: 0.113 AC: 394 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.6
DANN	Benign	0.50

Splicing

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

Other links and lift over

dbSNP: rs1818976; hg19: chr19-24430491;