14-97377773-G-T

Variant names:

• chr14-97377773-G-T
• rs7144551

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 0.256 in 151,960 control chromosomes in the GnomAD database, including 5,129 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 0.26 (5129 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.584
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.59).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.298 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.256 AC: 38852 AN: 151842 Hom.: 5133 Cov.: 32

Gnomad AFR AF: 0.302

Gnomad AMI AF: 0.298

Gnomad AMR AF: 0.240

Gnomad ASJ AF: 0.344

Gnomad EAS AF: 0.152

Gnomad SAS AF: 0.302

Gnomad FIN AF: 0.181

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.241

Gnomad OTH AF: 0.287

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

GnomAD4 genome AF: 0.256 AC: 38882 AN: 151960 Hom.: 5129 Cov.: 32 AF XY: 0.253 AC XY: 18794 AN XY: 74270

African (AFR) AF: 0.302 AC: 12518 AN: 41410

American (AMR) AF: 0.240 AC: 3672 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.344 AC: 1194 AN: 3466

East Asian (EAS) AF: 0.152 AC: 783 AN: 5150

South Asian (SAS) AF: 0.303 AC: 1460 AN: 4818

European-Finnish (FIN) AF: 0.181 AC: 1912 AN: 10570

Middle Eastern (MID) AF: 0.364 AC: 107 AN: 294

European-Non Finnish (NFE) AF: 0.241 AC: 16366 AN: 67968

Other (OTH) AF: 0.285 AC: 599 AN: 2104

Alfa AF: 0.243 Hom.: 5967

Bravo AF: 0.259

Asia WGS AF: 0.227 AC: 789 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.59
CADD	Benign	14
DANN	Benign	0.56
PhyloP100		0.58

Splicing

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

Other links and lift over

dbSNP: rs7144551; hg19: chr14-97844110;