rs4903696

Variant names:

• chr14-78050017-C-A
• rs4903696

Your query was ambiguous. Multiple possible variants found:

• chr14-78050017-C-A
• chr14-78050017-C-G
• chr14-78050017-C-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 0.512 in 152,072 control chromosomes in the GnomAD database, including 20,565 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 (20565 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0860
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.745 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: 0.512 AC: 77756 AN: 151954 Hom.: 20530 Cov.: 32

Gnomad AFR AF: 0.619

Gnomad AMI AF: 0.511

Gnomad AMR AF: 0.442

Gnomad ASJ AF: 0.394

Gnomad EAS AF: 0.764

Gnomad SAS AF: 0.429

Gnomad FIN AF: 0.526

Gnomad MID AF: 0.396

Gnomad NFE AF: 0.453

Gnomad OTH AF: 0.521

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

GnomAD4 genome AF: 0.512 AC: 77849 AN: 152072 Hom.: 20565 Cov.: 32 AF XY: 0.513 AC XY: 38104 AN XY: 74346

African (AFR) AF: 0.619 AC: 25675 AN: 41470

American (AMR) AF: 0.442 AC: 6756 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.394 AC: 1366 AN: 3468

East Asian (EAS) AF: 0.765 AC: 3962 AN: 5182

South Asian (SAS) AF: 0.429 AC: 2070 AN: 4822

European-Finnish (FIN) AF: 0.526 AC: 5556 AN: 10570

Middle Eastern (MID) AF: 0.412 AC: 121 AN: 294

European-Non Finnish (NFE) AF: 0.453 AC: 30777 AN: 67958

Other (OTH) AF: 0.521 AC: 1101 AN: 2112

Alfa AF: 0.489 Hom.: 14622

Bravo AF: 0.514

Asia WGS AF: 0.602 AC: 2091 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.93
DANN	Benign	0.29
PhyloP100		0.086

Splicing

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

Other links and lift over

dbSNP: rs4903696; hg19: chr14-78516360; COSMIC: COSV59174355;