rs4936310

Variant names:

• chr11-111030036-A-T
• rs4936310

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 0.34 in 152,002 control chromosomes in the GnomAD database, including 9,696 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 0.34 (9696 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.209
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.767 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.340 AC: 51626 AN: 151884 Hom.: 9686 Cov.: 32

Gnomad AFR AF: 0.264

Gnomad AMI AF: 0.262

Gnomad AMR AF: 0.378

Gnomad ASJ AF: 0.434

Gnomad EAS AF: 0.788

Gnomad SAS AF: 0.657

Gnomad FIN AF: 0.327

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.318

Gnomad OTH AF: 0.358

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

GnomAD4 genome AF: 0.340 AC: 51675 AN: 152002 Hom.: 9696 Cov.: 32 AF XY: 0.350 AC XY: 26018 AN XY: 74296

African (AFR) AF: 0.264 AC: 10955 AN: 41494

American (AMR) AF: 0.379 AC: 5783 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.434 AC: 1506 AN: 3470

East Asian (EAS) AF: 0.787 AC: 4069 AN: 5168

South Asian (SAS) AF: 0.656 AC: 3160 AN: 4814

European-Finnish (FIN) AF: 0.327 AC: 3438 AN: 10514

Middle Eastern (MID) AF: 0.490 AC: 144 AN: 294

European-Non Finnish (NFE) AF: 0.318 AC: 21612 AN: 67950

Other (OTH) AF: 0.365 AC: 770 AN: 2112

Alfa AF: 0.316 Hom.: 961

Bravo AF: 0.338

Asia WGS AF: 0.686 AC: 2376 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.4
DANN	Benign	0.67
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs4936310; hg19: chr11-110900760;