rs1951096

Variant names:

• chr14-98604151-T-C
• rs1951096

Your query was ambiguous. Multiple possible variants found:

• chr14-98604151-T-C
• chr14-98604151-T-G

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 0.506 in 151,984 control chromosomes in the GnomAD database, including 19,892 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 0.51 (19892 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.37
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.7).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.521 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.506 AC: 76835 AN: 151866 Hom.: 19889 Cov.: 32

Gnomad AFR AF: 0.501

Gnomad AMI AF: 0.380

Gnomad AMR AF: 0.434

Gnomad ASJ AF: 0.465

Gnomad EAS AF: 0.236

Gnomad SAS AF: 0.476

Gnomad FIN AF: 0.677

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.526

Gnomad OTH AF: 0.491

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

GnomAD4 genome AF: 0.506 AC: 76869 AN: 151984 Hom.: 19892 Cov.: 32 AF XY: 0.507 AC XY: 37684 AN XY: 74316

African (AFR) AF: 0.500 AC: 20721 AN: 41416

American (AMR) AF: 0.434 AC: 6621 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.465 AC: 1613 AN: 3470

East Asian (EAS) AF: 0.236 AC: 1220 AN: 5174

South Asian (SAS) AF: 0.475 AC: 2288 AN: 4814

European-Finnish (FIN) AF: 0.677 AC: 7155 AN: 10576

Middle Eastern (MID) AF: 0.510 AC: 150 AN: 294

European-Non Finnish (NFE) AF: 0.526 AC: 35721 AN: 67948

Other (OTH) AF: 0.489 AC: 1034 AN: 2116

Alfa AF: 0.420 Hom.: 1359

Bravo AF: 0.481

Asia WGS AF: 0.389 AC: 1353 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.70
CADD	Benign	14
DANN	Benign	0.87
PhyloP100		1.4

Splicing

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

Other links and lift over

dbSNP: rs1951096; hg19: chr14-99070488;