rs7562879

Positions:

• chr2-48756256-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001198593.2(STON1-GTF2A1L):​c.3442-20024G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.246 in 151,914 control chromosomes in the GnomAD database, including 6,935 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 0.25 (6935 hom., cov: 31)
• Consequence: STON1-GTF2A1L NM_001198593.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.92

Genes affected

STON1-GTF2A1L (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.506 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
STON1-GTF2A1L	NM_001198593.2	c.3442-20024G>A		intron_variant			NP_001185522.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.246 AC: 37322 AN: 151796 Hom.: 6918 Cov.: 31

Gnomad AFR AF: 0.512

Gnomad AMI AF: 0.160

Gnomad AMR AF: 0.234

Gnomad ASJ AF: 0.0771

Gnomad EAS AF: 0.265

Gnomad SAS AF: 0.188

Gnomad FIN AF: 0.140

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.118

Gnomad OTH AF: 0.200

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

GnomAD4 genome AF: 0.246 AC: 37391 AN: 151914 Hom.: 6935 Cov.: 31 AF XY: 0.247 AC XY: 18312 AN XY: 74230

Gnomad4 AFR AF: 0.512

Gnomad4 AMR AF: 0.234

Gnomad4 ASJ AF: 0.0771

Gnomad4 EAS AF: 0.266

Gnomad4 SAS AF: 0.188

Gnomad4 FIN AF: 0.140

Gnomad4 NFE AF: 0.118

Gnomad4 OTH AF: 0.201

Alfa AF: 0.145 Hom.: 2344

Bravo AF: 0.264

Asia WGS AF: 0.242 AC: 839 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.0020
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7562879; hg19: chr2-48983395;