11-18257365-G-A

Variant names:

• chr11-18257365-G-A
• rs7950019

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 0.673 in 152,074 control chromosomes in the GnomAD database, including 34,668 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 0.67 (34668 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.331
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.69 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: 0.673 AC: 102214 AN: 151956 Hom.: 34632 Cov.: 32

Gnomad AFR AF: 0.663

Gnomad AMI AF: 0.566

Gnomad AMR AF: 0.605

Gnomad ASJ AF: 0.518

Gnomad EAS AF: 0.678

Gnomad SAS AF: 0.633

Gnomad FIN AF: 0.756

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.695

Gnomad OTH AF: 0.615

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

GnomAD4 genome AF: 0.673 AC: 102300 AN: 152074 Hom.: 34668 Cov.: 32 AF XY: 0.673 AC XY: 49991 AN XY: 74336

African (AFR) AF: 0.663 AC: 27512 AN: 41474

American (AMR) AF: 0.605 AC: 9245 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.518 AC: 1796 AN: 3470

East Asian (EAS) AF: 0.678 AC: 3517 AN: 5186

South Asian (SAS) AF: 0.635 AC: 3064 AN: 4828

European-Finnish (FIN) AF: 0.756 AC: 7983 AN: 10558

Middle Eastern (MID) AF: 0.449 AC: 132 AN: 294

European-Non Finnish (NFE) AF: 0.695 AC: 47245 AN: 67978

Other (OTH) AF: 0.613 AC: 1292 AN: 2106

Alfa AF: 0.660 Hom.: 53434

Bravo AF: 0.661

Asia WGS AF: 0.708 AC: 2458 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.3
DANN	Benign	0.28
PhyloP100		-0.33

Splicing

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

Other links and lift over

dbSNP: rs7950019; hg19: chr11-18278912;