rs9351814

Variant names:

• chr6-71484004-A-C
• rs9351814

Your query was ambiguous. Multiple possible variants found:

• chr6-71484004-A-C
• chr6-71484004-A-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 0.361 in 151,918 control chromosomes in the GnomAD database, including 10,438 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 0.36 (10438 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.437

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.533 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: 0.361 AC: 54811 AN: 151800 Hom.: 10441 Cov.: 32

Gnomad AFR AF: 0.260

Gnomad AMI AF: 0.451

Gnomad AMR AF: 0.444

Gnomad ASJ AF: 0.351

Gnomad EAS AF: 0.549

Gnomad SAS AF: 0.508

Gnomad FIN AF: 0.406

Gnomad MID AF: 0.381

Gnomad NFE AF: 0.371

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.361 AC: 54836 AN: 151918 Hom.: 10438 Cov.: 32 AF XY: 0.370 AC XY: 27445 AN XY: 74230

Gnomad4 AFR AF: 0.260

Gnomad4 AMR AF: 0.444

Gnomad4 ASJ AF: 0.351

Gnomad4 EAS AF: 0.550

Gnomad4 SAS AF: 0.507

Gnomad4 FIN AF: 0.406

Gnomad4 NFE AF: 0.371

Gnomad4 OTH AF: 0.363

Alfa AF: 0.378 Hom.: 18351

Bravo AF: 0.362

Asia WGS AF: 0.520 AC: 1808 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.32
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9351814; hg19: chr6-72193707;