rs1349710

Variant names:

• chr6-141173541-A-G
• rs1349710

Your query was ambiguous. Multiple possible variants found:

• chr6-141173541-A-G
• chr6-141173541-A-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 0.72 in 152,038 control chromosomes in the GnomAD database, including 39,752 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 0.72 (39752 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.274

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.868 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: 0.719 AC: 109286 AN: 151920 Hom.: 39706 Cov.: 31

Gnomad AFR AF: 0.791

Gnomad AMI AF: 0.758

Gnomad AMR AF: 0.735

Gnomad ASJ AF: 0.663

Gnomad EAS AF: 0.889

Gnomad SAS AF: 0.746

Gnomad FIN AF: 0.634

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.673

Gnomad OTH AF: 0.739

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

GnomAD4 genome AF: 0.720 AC: 109394 AN: 152038 Hom.: 39752 Cov.: 31 AF XY: 0.719 AC XY: 53409 AN XY: 74314

Gnomad4 AFR AF: 0.791

Gnomad4 AMR AF: 0.735

Gnomad4 ASJ AF: 0.663

Gnomad4 EAS AF: 0.890

Gnomad4 SAS AF: 0.746

Gnomad4 FIN AF: 0.634

Gnomad4 NFE AF: 0.673

Gnomad4 OTH AF: 0.740

Alfa AF: 0.716 Hom.: 6630

Bravo AF: 0.732

Asia WGS AF: 0.811 AC: 2823 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.25
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: rs1349710; hg19: chr6-141494678;