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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.506 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

Gnomad4 AFR AF: 0.500

Gnomad4 AMR AF: 0.434

Gnomad4 ASJ AF: 0.465

Gnomad4 EAS AF: 0.236

Gnomad4 SAS AF: 0.475

Gnomad4 FIN AF: 0.677

Gnomad4 NFE AF: 0.526

Gnomad4 OTH AF: 0.489

Alfa AF: 0.411 Hom.: 1235

Bravo AF: 0.481

Asia WGS AF: 0.389 AC: 1353 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1951096; hg19: chr14-99070488;