rs1885094

Variant names:

• chr14-60732627-C-T
• rs1885094

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 0.671 in 152,020 control chromosomes in the GnomAD database, including 34,693 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 0.67 (34693 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.62

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.719 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: 0.672 AC: 102031 AN: 151902 Hom.: 34696 Cov.: 31

Gnomad AFR AF: 0.576

Gnomad AMI AF: 0.748

Gnomad AMR AF: 0.730

Gnomad ASJ AF: 0.607

Gnomad EAS AF: 0.634

Gnomad SAS AF: 0.647

Gnomad FIN AF: 0.725

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.715

Gnomad OTH AF: 0.685

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

GnomAD4 genome AF: 0.671 AC: 102068 AN: 152020 Hom.: 34693 Cov.: 31 AF XY: 0.672 AC XY: 49957 AN XY: 74316

Gnomad4 AFR AF: 0.575

Gnomad4 AMR AF: 0.730

Gnomad4 ASJ AF: 0.607

Gnomad4 EAS AF: 0.633

Gnomad4 SAS AF: 0.646

Gnomad4 FIN AF: 0.725

Gnomad4 NFE AF: 0.715

Gnomad4 OTH AF: 0.684

Alfa AF: 0.699 Hom.: 43385

Bravo AF: 0.670

Asia WGS AF: 0.670 AC: 2330 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.019
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1885094; hg19: chr14-61199345;