rs10047948

Variant names:

• chr14-21610372-G-A
• rs10047948

Your query was ambiguous. Multiple possible variants found:

• chr14-21610372-G-A
• chr14-21610372-G-T

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 0.875 in 152,232 control chromosomes in the GnomAD database, including 58,507 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 0.87 (58507 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0980

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 (SAS) allele frequency at 95% confidence interval = 0.897 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: 0.875 AC: 133095 AN: 152116 Hom.: 58463 Cov.: 31

Gnomad AFR AF: 0.905

Gnomad AMI AF: 0.956

Gnomad AMR AF: 0.848

Gnomad ASJ AF: 0.857

Gnomad EAS AF: 0.626

Gnomad SAS AF: 0.907

Gnomad FIN AF: 0.900

Gnomad MID AF: 0.896

Gnomad NFE AF: 0.875

Gnomad OTH AF: 0.880

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

GnomAD4 genome AF: 0.875 AC: 133193 AN: 152232 Hom.: 58507 Cov.: 31 AF XY: 0.875 AC XY: 65165 AN XY: 74450

Gnomad4 AFR AF: 0.905

Gnomad4 AMR AF: 0.848

Gnomad4 ASJ AF: 0.857

Gnomad4 EAS AF: 0.626

Gnomad4 SAS AF: 0.907

Gnomad4 FIN AF: 0.900

Gnomad4 NFE AF: 0.875

Gnomad4 OTH AF: 0.880

Alfa AF: 0.876 Hom.: 73763

Bravo AF: 0.870

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	6.4

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10047948; hg19: chr14-22078529;