14-94330956-A-G

Variant names:

• chr14-94330956-A-G
• rs746530

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 0.631 in 151,344 control chromosomes in the GnomAD database, including 31,021 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 0.63 (31021 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.805
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.962 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: 0.631 AC: 95407 AN: 151224 Hom.: 31005 Cov.: 33

Gnomad AFR AF: 0.503

Gnomad AMI AF: 0.720

Gnomad AMR AF: 0.602

Gnomad ASJ AF: 0.530

Gnomad EAS AF: 0.985

Gnomad SAS AF: 0.717

Gnomad FIN AF: 0.682

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.679

Gnomad OTH AF: 0.625

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

GnomAD4 genome AF: 0.631 AC: 95468 AN: 151344 Hom.: 31021 Cov.: 33 AF XY: 0.632 AC XY: 46717 AN XY: 73958

African (AFR) AF: 0.503 AC: 20751 AN: 41252

American (AMR) AF: 0.601 AC: 9164 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.530 AC: 1838 AN: 3468

East Asian (EAS) AF: 0.985 AC: 5061 AN: 5138

South Asian (SAS) AF: 0.717 AC: 3444 AN: 4804

European-Finnish (FIN) AF: 0.682 AC: 7150 AN: 10486

Middle Eastern (MID) AF: 0.599 AC: 176 AN: 294

European-Non Finnish (NFE) AF: 0.679 AC: 45909 AN: 67644

Other (OTH) AF: 0.630 AC: 1326 AN: 2106

Alfa AF: 0.654 Hom.: 85281

Bravo AF: 0.622

Asia WGS AF: 0.828 AC: 2739 AN: 3310

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.41
PhyloP100		-0.81

Splicing

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

Other links and lift over

dbSNP: rs746530; hg19: chr14-94797293;