rs348495

Variant names:

• chr4-45182425-G-A
• rs348495

Your query was ambiguous. Multiple possible variants found:

• chr4-45182425-G-A
• chr4-45182425-G-C
• chr4-45182425-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 0.486 in 151,776 control chromosomes in the GnomAD database, including 19,062 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 0.49 (19062 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.368

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.652 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: 0.486 AC: 73669 AN: 151658 Hom.: 19032 Cov.: 32

Gnomad AFR AF: 0.659

Gnomad AMI AF: 0.416

Gnomad AMR AF: 0.430

Gnomad ASJ AF: 0.358

Gnomad EAS AF: 0.669

Gnomad SAS AF: 0.347

Gnomad FIN AF: 0.346

Gnomad MID AF: 0.360

Gnomad NFE AF: 0.419

Gnomad OTH AF: 0.468

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

GnomAD4 genome AF: 0.486 AC: 73755 AN: 151776 Hom.: 19062 Cov.: 32 AF XY: 0.480 AC XY: 35605 AN XY: 74166

Gnomad4 AFR AF: 0.659

Gnomad4 AMR AF: 0.430

Gnomad4 ASJ AF: 0.358

Gnomad4 EAS AF: 0.669

Gnomad4 SAS AF: 0.346

Gnomad4 FIN AF: 0.346

Gnomad4 NFE AF: 0.419

Gnomad4 OTH AF: 0.475

Alfa AF: 0.462 Hom.: 2946

Bravo AF: 0.503

Asia WGS AF: 0.553 AC: 1917 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.6
DANN	Benign	0.13

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs348495; hg19: chr4-45184442;