rs8007728

Variant names:

• chr14-81706360-G-A
• rs8007728

Your query was ambiguous. Multiple possible variants found:

• chr14-81706360-G-A
• chr14-81706360-G-C

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 0.784 in 150,386 control chromosomes in the GnomAD database, including 46,987 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 0.78 (46987 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.98
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.928 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: 0.783 AC: 117723 AN: 150270 Hom.: 46924 Cov.: 28

Gnomad AFR AF: 0.935

Gnomad AMI AF: 0.841

Gnomad AMR AF: 0.722

Gnomad ASJ AF: 0.765

Gnomad EAS AF: 0.448

Gnomad SAS AF: 0.673

Gnomad FIN AF: 0.680

Gnomad MID AF: 0.796

Gnomad NFE AF: 0.753

Gnomad OTH AF: 0.796

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

GnomAD4 genome AF: 0.784 AC: 117843 AN: 150386 Hom.: 46987 Cov.: 28 AF XY: 0.776 AC XY: 56933 AN XY: 73352

African (AFR) AF: 0.935 AC: 38511 AN: 41168

American (AMR) AF: 0.722 AC: 10860 AN: 15042

Ashkenazi Jewish (ASJ) AF: 0.765 AC: 2645 AN: 3458

East Asian (EAS) AF: 0.449 AC: 2216 AN: 4938

South Asian (SAS) AF: 0.674 AC: 3183 AN: 4720

European-Finnish (FIN) AF: 0.680 AC: 7028 AN: 10336

Middle Eastern (MID) AF: 0.808 AC: 236 AN: 292

European-Non Finnish (NFE) AF: 0.753 AC: 50749 AN: 67438

Other (OTH) AF: 0.792 AC: 1658 AN: 2094

Alfa AF: 0.763 Hom.: 10978

Bravo AF: 0.792

Asia WGS AF: 0.606 AC: 2067 AN: 3408

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.66
DANN	Benign	0.66
PhyloP100		-2.0

Splicing

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

Other links and lift over

dbSNP: rs8007728; hg19: chr14-82172704;