chr14-85276014-G-C

Variant names:

• chr14-85276014-G-C
• rs961166

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 0.593 in 151,714 control chromosomes in the GnomAD database, including 28,266 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 0.59 (28266 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.57
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.771 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.593 AC: 89832 AN: 151596 Hom.: 28231 Cov.: 32

Gnomad AFR AF: 0.778

Gnomad AMI AF: 0.476

Gnomad AMR AF: 0.500

Gnomad ASJ AF: 0.554

Gnomad EAS AF: 0.0917

Gnomad SAS AF: 0.362

Gnomad FIN AF: 0.584

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.561

Gnomad OTH AF: 0.555

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

GnomAD4 genome AF: 0.593 AC: 89921 AN: 151714 Hom.: 28266 Cov.: 32 AF XY: 0.585 AC XY: 43408 AN XY: 74150

African (AFR) AF: 0.778 AC: 32255 AN: 41440

American (AMR) AF: 0.499 AC: 7596 AN: 15208

Ashkenazi Jewish (ASJ) AF: 0.554 AC: 1915 AN: 3458

East Asian (EAS) AF: 0.0920 AC: 473 AN: 5144

South Asian (SAS) AF: 0.364 AC: 1754 AN: 4822

European-Finnish (FIN) AF: 0.584 AC: 6165 AN: 10564

Middle Eastern (MID) AF: 0.612 AC: 180 AN: 294

European-Non Finnish (NFE) AF: 0.561 AC: 37993 AN: 67768

Other (OTH) AF: 0.549 AC: 1156 AN: 2104

Alfa AF: 0.498 Hom.: 1519

Bravo AF: 0.594

Asia WGS AF: 0.264 AC: 917 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.35
DANN	Benign	0.59
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs961166; hg19: chr14-85742358;