14-96204324-T-C

Variant names:

• chr14-96204324-T-C
• rs945032

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 0.789 in 151,950 control chromosomes in the GnomAD database, including 47,671 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 0.79 (47671 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.102
• Publications: 20 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.858 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: 0.789 AC: 119772 AN: 151830 Hom.: 47650 Cov.: 30

Gnomad AFR AF: 0.681

Gnomad AMI AF: 0.895

Gnomad AMR AF: 0.870

Gnomad ASJ AF: 0.766

Gnomad EAS AF: 0.868

Gnomad SAS AF: 0.839

Gnomad FIN AF: 0.852

Gnomad MID AF: 0.815

Gnomad NFE AF: 0.816

Gnomad OTH AF: 0.789

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

GnomAD4 genome AF: 0.789 AC: 119841 AN: 151950 Hom.: 47671 Cov.: 30 AF XY: 0.791 AC XY: 58719 AN XY: 74276

African (AFR) AF: 0.681 AC: 28163 AN: 41378

American (AMR) AF: 0.870 AC: 13288 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.766 AC: 2658 AN: 3468

East Asian (EAS) AF: 0.868 AC: 4468 AN: 5146

South Asian (SAS) AF: 0.839 AC: 4035 AN: 4810

European-Finnish (FIN) AF: 0.852 AC: 9014 AN: 10578

Middle Eastern (MID) AF: 0.813 AC: 239 AN: 294

European-Non Finnish (NFE) AF: 0.816 AC: 55503 AN: 67982

Other (OTH) AF: 0.785 AC: 1657 AN: 2112

Alfa AF: 0.805 Hom.: 161133

Bravo AF: 0.781

Asia WGS AF: 0.821 AC: 2853 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.92
DANN	Benign	0.30
PhyloP100		-0.10
PromoterAI		0.0033	Neutral

Splicing

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

Other links and lift over

dbSNP: rs945032; hg19: chr14-96670661;