rs935340

Variant names:

• chr14-76124863-A-C
• rs935340

Your query was ambiguous. Multiple possible variants found:

• chr14-76124863-A-C
• chr14-76124863-A-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 0.221 in 152,056 control chromosomes in the GnomAD database, including 4,160 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 0.22 (4160 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.124

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.338 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: 0.221 AC: 33608 AN: 151938 Hom.: 4153 Cov.: 32

Gnomad AFR AF: 0.343

Gnomad AMI AF: 0.160

Gnomad AMR AF: 0.233

Gnomad ASJ AF: 0.138

Gnomad EAS AF: 0.166

Gnomad SAS AF: 0.155

Gnomad FIN AF: 0.137

Gnomad MID AF: 0.174

Gnomad NFE AF: 0.173

Gnomad OTH AF: 0.200

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

GnomAD4 genome AF: 0.221 AC: 33662 AN: 152056 Hom.: 4160 Cov.: 32 AF XY: 0.220 AC XY: 16386 AN XY: 74328

Gnomad4 AFR AF: 0.343

Gnomad4 AMR AF: 0.233

Gnomad4 ASJ AF: 0.138

Gnomad4 EAS AF: 0.166

Gnomad4 SAS AF: 0.155

Gnomad4 FIN AF: 0.137

Gnomad4 NFE AF: 0.173

Gnomad4 OTH AF: 0.198

Alfa AF: 0.168 Hom.: 2595

Bravo AF: 0.233

Asia WGS AF: 0.175 AC: 610 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.45
DANN	Benign	0.29

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs935340; hg19: chr14-76591206;