chr14-70885931-T-G

Variant names:

• chr14-70885931-T-G
• rs36563

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 20 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.784 AC: 32489 AN: 41448

American (AMR) AF: 0.868 AC: 13277 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.789 AC: 2738 AN: 3472

East Asian (EAS) AF: 0.816 AC: 4215 AN: 5166

South Asian (SAS) AF: 0.947 AC: 4567 AN: 4822

European-Finnish (FIN) AF: 0.909 AC: 9652 AN: 10614

Middle Eastern (MID) AF: 0.697 AC: 205 AN: 294

European-Non Finnish (NFE) AF: 0.838 AC: 57005 AN: 67992

Other (OTH) AF: 0.822 AC: 1739 AN: 2116

Alfa AF: 0.833 Hom.: 219223

Bravo AF: 0.825

Asia WGS AF: 0.901 AC: 3133 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.4
DANN	Benign	0.67
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs36563; hg19: chr14-71352648;