rs11849674

Variant names:

• chr14-60221305-A-G
• rs11849674

Your query was ambiguous. Multiple possible variants found:

• chr14-60221305-A-G
• chr14-60221305-A-T

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 0.377 in 151,792 control chromosomes in the GnomAD database, including 11,407 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 0.38 (11407 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.262
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.514 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: 0.377 AC: 57110 AN: 151674 Hom.: 11390 Cov.: 30

Gnomad AFR AF: 0.519

Gnomad AMI AF: 0.286

Gnomad AMR AF: 0.290

Gnomad ASJ AF: 0.433

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.472

Gnomad FIN AF: 0.295

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.328

Gnomad OTH AF: 0.358

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

GnomAD4 genome AF: 0.377 AC: 57167 AN: 151792 Hom.: 11407 Cov.: 30 AF XY: 0.372 AC XY: 27600 AN XY: 74172

African (AFR) AF: 0.519 AC: 21463 AN: 41322

American (AMR) AF: 0.290 AC: 4423 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.433 AC: 1501 AN: 3464

East Asian (EAS) AF: 0.190 AC: 978 AN: 5160

South Asian (SAS) AF: 0.469 AC: 2259 AN: 4814

European-Finnish (FIN) AF: 0.295 AC: 3109 AN: 10534

Middle Eastern (MID) AF: 0.432 AC: 127 AN: 294

European-Non Finnish (NFE) AF: 0.328 AC: 22298 AN: 67928

Other (OTH) AF: 0.355 AC: 748 AN: 2108

Alfa AF: 0.328 Hom.: 1463

Bravo AF: 0.380

Asia WGS AF: 0.316 AC: 1099 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.9
DANN	Benign	0.41
PhyloP100		0.26

Splicing

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

Other links and lift over

dbSNP: rs11849674; hg19: chr14-60688023;