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. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.252 AC: 10466 AN: 41476

American (AMR) AF: 0.217 AC: 3322 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.275 AC: 952 AN: 3464

East Asian (EAS) AF: 0.484 AC: 2504 AN: 5172

South Asian (SAS) AF: 0.249 AC: 1201 AN: 4820

European-Finnish (FIN) AF: 0.334 AC: 3527 AN: 10566

Middle Eastern (MID) AF: 0.318 AC: 93 AN: 292

European-Non Finnish (NFE) AF: 0.306 AC: 20814 AN: 67974

Other (OTH) AF: 0.289 AC: 611 AN: 2112

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.0
DANN	Benign	0.39
PhyloP100		0.25

Splicing

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

Other links and lift over

dbSNP: rs61987505; hg19: chr14-69332302;