rs7421388

Positions:

• chr2-198223806-A-C
• chr2-198223806-A-G
• chr2-198223806-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BS1 BS2

The variant allele was found at a frequency of 0.0195 in 152,136 control chromosomes in the GnomAD database, including 25 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 0.020 (25 hom., cov: 31)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.792

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BS1: Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0195 (2967/152136) while in subpopulation NFE AF= 0.0252 (1711/68008). AF 95% confidence interval is 0.0242. There are 25 homozygotes in gnomad4. There are 1459 alleles in male gnomad4 subpopulation. Median coverage is 31. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 25 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.198223806A>C		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PLCL1	ENST00000625084.1	n.44+74388A>C		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.0195 AC: 2968 AN: 152018 Hom.: 25 Cov.: 31

Gnomad AFR AF: 0.0178

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0102

Gnomad ASJ AF: 0.00230

Gnomad EAS AF: 0.000577

Gnomad SAS AF: 0.0122

Gnomad FIN AF: 0.0248

Gnomad MID AF: 0.00633

Gnomad NFE AF: 0.0252

Gnomad OTH AF: 0.0153

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

GnomAD4 genome AF: 0.0195 AC: 2967 AN: 152136 Hom.: 25 Cov.: 31 AF XY: 0.0196 AC XY: 1459 AN XY: 74378

Gnomad4 AFR AF: 0.0177

Gnomad4 AMR AF: 0.0101

Gnomad4 ASJ AF: 0.00230

Gnomad4 EAS AF: 0.000579

Gnomad4 SAS AF: 0.0123

Gnomad4 FIN AF: 0.0248

Gnomad4 NFE AF: 0.0252

Gnomad4 OTH AF: 0.0152

Alfa AF: 0.000780 Hom.: 65695

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.0
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7421388; hg19: chr2-199088530;