rs1274944

chr14-68858717-G-Achr14-68858717-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 0.719 in 152,006 control chromosomes in the GnomAD database, including 41,160 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 0.72 (41160 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.792

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.829 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.720 AC: 109300 AN: 151888 Hom.: 41135 Cov.: 31

Gnomad AFR AF: 0.499

Gnomad AMI AF: 0.810

Gnomad AMR AF: 0.815

Gnomad ASJ AF: 0.750

Gnomad EAS AF: 0.527

Gnomad SAS AF: 0.715

Gnomad FIN AF: 0.777

Gnomad MID AF: 0.771

Gnomad NFE AF: 0.835

Gnomad OTH AF: 0.720

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

GnomAD4 genome AF: 0.719 AC: 109363 AN: 152006 Hom.: 41160 Cov.: 31 AF XY: 0.717 AC XY: 53250 AN XY: 74294

Gnomad4 AFR AF: 0.499

Gnomad4 AMR AF: 0.816

Gnomad4 ASJ AF: 0.750

Gnomad4 EAS AF: 0.527

Gnomad4 SAS AF: 0.715

Gnomad4 FIN AF: 0.777

Gnomad4 NFE AF: 0.835

Gnomad4 OTH AF: 0.724

Alfa AF: 0.802 Hom.: 24902

Bravo AF: 0.709

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	2.0
Dann	Benign	0.83

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1274944; hg19: chr14-69325434;