rs34623097

Variant names:

• chr5-148825046-G-A
• rs34623097

Your query was ambiguous. Multiple possible variants found:

• chr5-148825046-G-A
• chr5-148825046-G-C

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 0.00714 in 152,336 control chromosomes in the GnomAD database, including 32 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 0.0071 (32 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.721

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.65).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.0814 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: 0.00714 AC: 1087 AN: 152216 Hom.: 32 Cov.: 33

Gnomad AFR AF: 0.000265

Gnomad AMI AF: 0.0110

Gnomad AMR AF: 0.00131

Gnomad ASJ AF: 0.00576

Gnomad EAS AF: 0.0877

Gnomad SAS AF: 0.0356

Gnomad FIN AF: 0.0248

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00184

Gnomad OTH AF: 0.00478

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

GnomAD4 genome AF: 0.00714 AC: 1088 AN: 152336 Hom.: 32 Cov.: 33 AF XY: 0.00860 AC XY: 641 AN XY: 74502

Gnomad4 AFR AF: 0.000265

Gnomad4 AMR AF: 0.00131

Gnomad4 ASJ AF: 0.00576

Gnomad4 EAS AF: 0.0881

Gnomad4 SAS AF: 0.0358

Gnomad4 FIN AF: 0.0248

Gnomad4 NFE AF: 0.00184

Gnomad4 OTH AF: 0.00425

Alfa AF: 0.00512 Hom.: 5

Bravo AF: 0.00503

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.65
CADD	Benign	7.9
DANN	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs34623097; hg19: chr5-148204609;