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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.140 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

Gnomad4 AFR AF: 0.313

Gnomad4 AMR AF: 0.141

Gnomad4 ASJ AF: 0.0656

Gnomad4 EAS AF: 0.0949

Gnomad4 SAS AF: 0.105

Gnomad4 FIN AF: 0.0592

Gnomad4 NFE AF: 0.0579

Gnomad4 OTH AF: 0.128

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 v4.3

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

Publications

LitVar

Other links and lift over

dbSNP: rs1818976; hg19: chr19-24430491;