rs1334346

Variant names:

• chr6-72483449-C-A
• rs1334346

Your query was ambiguous. Multiple possible variants found:

• chr6-72483449-C-A
• chr6-72483449-C-G
• chr6-72483449-C-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 0.67 in 151,882 control chromosomes in the GnomAD database, including 35,631 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 0.67 (35631 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.192

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.879 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: 0.670 AC: 101747 AN: 151764 Hom.: 35587 Cov.: 31

Gnomad AFR AF: 0.887

Gnomad AMI AF: 0.586

Gnomad AMR AF: 0.615

Gnomad ASJ AF: 0.493

Gnomad EAS AF: 0.547

Gnomad SAS AF: 0.582

Gnomad FIN AF: 0.657

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.580

Gnomad OTH AF: 0.643

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

GnomAD4 genome AF: 0.670 AC: 101833 AN: 151882 Hom.: 35631 Cov.: 31 AF XY: 0.669 AC XY: 49625 AN XY: 74214

Gnomad4 AFR AF: 0.887

Gnomad4 AMR AF: 0.614

Gnomad4 ASJ AF: 0.493

Gnomad4 EAS AF: 0.547

Gnomad4 SAS AF: 0.582

Gnomad4 FIN AF: 0.657

Gnomad4 NFE AF: 0.580

Gnomad4 OTH AF: 0.637

Alfa AF: 0.551 Hom.: 2693

Bravo AF: 0.674

Asia WGS AF: 0.574 AC: 1999 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.77
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1334346; hg19: chr6-73193151;