rs1361314

Variant names:

• chr9-8177862-A-C
• rs1361314

Your query was ambiguous. Multiple possible variants found:

• chr9-8177862-A-C
• chr9-8177862-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 0.984 in 152,038 control chromosomes in the GnomAD database, including 73,662 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 0.98 (73662 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.58

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.987 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: 0.984 AC: 149530 AN: 151920 Hom.: 73613 Cov.: 30

Gnomad AFR AF: 0.971

Gnomad AMI AF: 0.909

Gnomad AMR AF: 0.986

Gnomad ASJ AF: 0.987

Gnomad EAS AF: 0.937

Gnomad SAS AF: 0.994

Gnomad FIN AF: 0.998

Gnomad MID AF: 0.984

Gnomad NFE AF: 0.993

Gnomad OTH AF: 0.982

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

GnomAD4 genome AF: 0.984 AC: 149638 AN: 152038 Hom.: 73662 Cov.: 30 AF XY: 0.985 AC XY: 73167 AN XY: 74298

Gnomad4 AFR AF: 0.971

Gnomad4 AMR AF: 0.986

Gnomad4 ASJ AF: 0.987

Gnomad4 EAS AF: 0.937

Gnomad4 SAS AF: 0.994

Gnomad4 FIN AF: 0.998

Gnomad4 NFE AF: 0.993

Gnomad4 OTH AF: 0.981

Alfa AF: 0.985 Hom.: 10493

Bravo AF: 0.981

Asia WGS AF: 0.965 AC: 3356 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.21
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1361314; hg19: chr9-8177862;