rs11624776

Variant names:

• chr14-93129246-A-C
• rs11624776

Your query was ambiguous. Multiple possible variants found:

• chr14-93129246-A-C
• chr14-93129246-A-T

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 0.259 in 152,190 control chromosomes in the GnomAD database, including 5,896 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 0.26 (5896 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.614

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.337 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: 0.259 AC: 39434 AN: 152072 Hom.: 5890 Cov.: 33

Gnomad AFR AF: 0.105

Gnomad AMI AF: 0.350

Gnomad AMR AF: 0.345

Gnomad ASJ AF: 0.339

Gnomad EAS AF: 0.157

Gnomad SAS AF: 0.304

Gnomad FIN AF: 0.312

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.325

Gnomad OTH AF: 0.290

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

GnomAD4 genome AF: 0.259 AC: 39449 AN: 152190 Hom.: 5896 Cov.: 33 AF XY: 0.262 AC XY: 19503 AN XY: 74406

Gnomad4 AFR AF: 0.104

Gnomad4 AMR AF: 0.345

Gnomad4 ASJ AF: 0.339

Gnomad4 EAS AF: 0.157

Gnomad4 SAS AF: 0.304

Gnomad4 FIN AF: 0.312

Gnomad4 NFE AF: 0.325

Gnomad4 OTH AF: 0.293

Alfa AF: 0.237 Hom.: 1089

Bravo AF: 0.252

Asia WGS AF: 0.259 AC: 901 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	14
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11624776; hg19: chr14-93595591;