14-95613538-A-G

Variant names:

• chr14-95613538-A-G
• rs1885418

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 0.585 in 152,146 control chromosomes in the GnomAD database, including 27,069 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 (27069 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.830

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.663 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: 0.585 AC: 88988 AN: 152026 Hom.: 27045 Cov.: 32

Gnomad AFR AF: 0.475

Gnomad AMI AF: 0.811

Gnomad AMR AF: 0.621

Gnomad ASJ AF: 0.641

Gnomad EAS AF: 0.187

Gnomad SAS AF: 0.426

Gnomad FIN AF: 0.656

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.669

Gnomad OTH AF: 0.598

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

GnomAD4 genome AF: 0.585 AC: 89053 AN: 152146 Hom.: 27069 Cov.: 32 AF XY: 0.582 AC XY: 43257 AN XY: 74368

Gnomad4 AFR AF: 0.475

Gnomad4 AMR AF: 0.621

Gnomad4 ASJ AF: 0.641

Gnomad4 EAS AF: 0.186

Gnomad4 SAS AF: 0.428

Gnomad4 FIN AF: 0.656

Gnomad4 NFE AF: 0.669

Gnomad4 OTH AF: 0.591

Alfa AF: 0.621 Hom.: 12044

Bravo AF: 0.576

Asia WGS AF: 0.298 AC: 1039 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.77
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1885418; hg19: chr14-96079875;