rs6919160

Variant names:

• chr6-85014445-T-A
• rs6919160

Your query was ambiguous. Multiple possible variants found:

• chr6-85014445-T-A
• chr6-85014445-T-C
• chr6-85014445-T-G

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 0.387 in 151,840 control chromosomes in the GnomAD database, including 11,979 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 0.39 (11979 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.313

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.511 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: 0.387 AC: 58725 AN: 151722 Hom.: 11966 Cov.: 31

Gnomad AFR AF: 0.459

Gnomad AMI AF: 0.217

Gnomad AMR AF: 0.482

Gnomad ASJ AF: 0.385

Gnomad EAS AF: 0.528

Gnomad SAS AF: 0.509

Gnomad FIN AF: 0.409

Gnomad MID AF: 0.308

Gnomad NFE AF: 0.302

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.387 AC: 58787 AN: 151840 Hom.: 11979 Cov.: 31 AF XY: 0.398 AC XY: 29546 AN XY: 74232

Gnomad4 AFR AF: 0.460

Gnomad4 AMR AF: 0.482

Gnomad4 ASJ AF: 0.385

Gnomad4 EAS AF: 0.528

Gnomad4 SAS AF: 0.509

Gnomad4 FIN AF: 0.409

Gnomad4 NFE AF: 0.302

Gnomad4 OTH AF: 0.365

Alfa AF: 0.215 Hom.: 465

Bravo AF: 0.393

Asia WGS AF: 0.516 AC: 1792 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.2
DANN	Benign	0.47

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6919160; hg19: chr6-85724163;