rs4014195

Variant names:

• chr11-65739351-C-G
• rs4014195

Your query was ambiguous. Multiple possible variants found:

• chr11-65739351-C-G
• chr11-65739351-C-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 0.31 in 151,890 control chromosomes in the GnomAD database, including 7,927 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 0.31 (7927 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.117

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.353 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: 0.310 AC: 47067 AN: 151772 Hom.: 7923 Cov.: 30

Gnomad AFR AF: 0.212

Gnomad AMI AF: 0.233

Gnomad AMR AF: 0.250

Gnomad ASJ AF: 0.401

Gnomad EAS AF: 0.228

Gnomad SAS AF: 0.367

Gnomad FIN AF: 0.482

Gnomad MID AF: 0.357

Gnomad NFE AF: 0.355

Gnomad OTH AF: 0.311

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

GnomAD4 genome AF: 0.310 AC: 47095 AN: 151890 Hom.: 7927 Cov.: 30 AF XY: 0.317 AC XY: 23537 AN XY: 74216

Gnomad4 AFR AF: 0.211

Gnomad4 AMR AF: 0.250

Gnomad4 ASJ AF: 0.401

Gnomad4 EAS AF: 0.227

Gnomad4 SAS AF: 0.367

Gnomad4 FIN AF: 0.482

Gnomad4 NFE AF: 0.355

Gnomad4 OTH AF: 0.314

Alfa AF: 0.345 Hom.: 5081

Bravo AF: 0.283

Asia WGS AF: 0.263 AC: 915 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	5.0
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4014195; hg19: chr11-65506822;