14-43963949-T-C

Variant names:

• chr14-43963949-T-C
• rs7144284

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.162 in 152,180 control chromosomes in the GnomAD database, including 2,824 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 0.16 (2824 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.216

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.492 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: 0.162 AC: 24583 AN: 152062 Hom.: 2809 Cov.: 32

Gnomad AFR AF: 0.231

Gnomad AMI AF: 0.0471

Gnomad AMR AF: 0.261

Gnomad ASJ AF: 0.125

Gnomad EAS AF: 0.508

Gnomad SAS AF: 0.174

Gnomad FIN AF: 0.125

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.0796

Gnomad OTH AF: 0.154

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

GnomAD4 genome AF: 0.162 AC: 24635 AN: 152180 Hom.: 2824 Cov.: 32 AF XY: 0.170 AC XY: 12625 AN XY: 74402

Gnomad4 AFR AF: 0.231

Gnomad4 AMR AF: 0.261

Gnomad4 ASJ AF: 0.125

Gnomad4 EAS AF: 0.508

Gnomad4 SAS AF: 0.174

Gnomad4 FIN AF: 0.125

Gnomad4 NFE AF: 0.0796

Gnomad4 OTH AF: 0.160

Alfa AF: 0.119 Hom.: 334

Bravo AF: 0.179

Asia WGS AF: 0.362 AC: 1257 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.1
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7144284; hg19: chr14-44433152;