chr14-63737764-C-T

Variant names:

• chr14-63737764-C-T
• rs8013824

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 0.978 in 152,236 control chromosomes in the GnomAD database, including 72,795 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 0.98 (72795 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.258
• Publications: 0 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 (EAS) allele frequency at 95% confidence interval = 0.986 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: 0.978 AC: 148743 AN: 152118 Hom.: 72735 Cov.: 30

Gnomad AFR AF: 0.994

Gnomad AMI AF: 0.977

Gnomad AMR AF: 0.974

Gnomad ASJ AF: 0.957

Gnomad EAS AF: 1.00

Gnomad SAS AF: 0.996

Gnomad FIN AF: 0.987

Gnomad MID AF: 0.972

Gnomad NFE AF: 0.966

Gnomad OTH AF: 0.975

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

GnomAD4 genome AF: 0.978 AC: 148862 AN: 152236 Hom.: 72795 Cov.: 30 AF XY: 0.979 AC XY: 72840 AN XY: 74418

African (AFR) AF: 0.994 AC: 41275 AN: 41532

American (AMR) AF: 0.974 AC: 14885 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.957 AC: 3320 AN: 3470

East Asian (EAS) AF: 1.00 AC: 5178 AN: 5178

South Asian (SAS) AF: 0.996 AC: 4800 AN: 4820

European-Finnish (FIN) AF: 0.987 AC: 10467 AN: 10610

Middle Eastern (MID) AF: 0.973 AC: 286 AN: 294

European-Non Finnish (NFE) AF: 0.966 AC: 65699 AN: 68020

Other (OTH) AF: 0.975 AC: 2061 AN: 2114

Alfa AF: 0.969 Hom.: 10635

Bravo AF: 0.977

Asia WGS AF: 0.996 AC: 3465 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	0.93
DANN	Benign	0.46
PhyloP100		-0.26

Splicing

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

Other links and lift over

dbSNP: rs8013824; hg19: chr14-64204482;