rs61987505

Variant names:

• chr14-68865585-G-A
• rs61987505

Your query was ambiguous. Multiple possible variants found:

• chr14-68865585-G-A
• chr14-68865585-G-C
• chr14-68865585-G-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 0.288 in 152,066 control chromosomes in the GnomAD database, including 6,521 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 0.29 (6521 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.252

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.468 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: 0.288 AC: 43712 AN: 151948 Hom.: 6508 Cov.: 32

Gnomad AFR AF: 0.252

Gnomad AMI AF: 0.287

Gnomad AMR AF: 0.218

Gnomad ASJ AF: 0.275

Gnomad EAS AF: 0.484

Gnomad SAS AF: 0.248

Gnomad FIN AF: 0.334

Gnomad MID AF: 0.303

Gnomad NFE AF: 0.306

Gnomad OTH AF: 0.293

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

GnomAD4 genome AF: 0.288 AC: 43752 AN: 152066 Hom.: 6521 Cov.: 32 AF XY: 0.288 AC XY: 21408 AN XY: 74346

Gnomad4 AFR AF: 0.252

Gnomad4 AMR AF: 0.217

Gnomad4 ASJ AF: 0.275

Gnomad4 EAS AF: 0.484

Gnomad4 SAS AF: 0.249

Gnomad4 FIN AF: 0.334

Gnomad4 NFE AF: 0.306

Gnomad4 OTH AF: 0.289

Alfa AF: 0.297 Hom.: 821

Bravo AF: 0.280

Asia WGS AF: 0.288 AC: 1005 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.0
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs61987505; hg19: chr14-69332302;