14-70885931-T-G

Variant names:

• chr14-70885931-T-G
• rs36563

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 0.832 in 152,128 control chromosomes in the GnomAD database, including 52,778 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 0.83 (52778 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.138

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.924 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: 0.832 AC: 126509 AN: 152010 Hom.: 52721 Cov.: 31

Gnomad AFR AF: 0.784

Gnomad AMI AF: 0.809

Gnomad AMR AF: 0.868

Gnomad ASJ AF: 0.789

Gnomad EAS AF: 0.816

Gnomad SAS AF: 0.947

Gnomad FIN AF: 0.909

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.838

Gnomad OTH AF: 0.820

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

GnomAD4 genome AF: 0.832 AC: 126625 AN: 152128 Hom.: 52778 Cov.: 31 AF XY: 0.837 AC XY: 62228 AN XY: 74368

Gnomad4 AFR AF: 0.784

Gnomad4 AMR AF: 0.868

Gnomad4 ASJ AF: 0.789

Gnomad4 EAS AF: 0.816

Gnomad4 SAS AF: 0.947

Gnomad4 FIN AF: 0.909

Gnomad4 NFE AF: 0.838

Gnomad4 OTH AF: 0.822

Alfa AF: 0.831 Hom.: 113749

Bravo AF: 0.825

Asia WGS AF: 0.901 AC: 3133 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.4
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs36563; hg19: chr14-71352648;