14-97356556-C-T

Variant names:

• chr14-97356556-C-T
• rs234440

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 0.625 in 152,052 control chromosomes in the GnomAD database, including 30,307 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 0.62 (30307 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.697
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.739 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: 0.625 AC: 94948 AN: 151934 Hom.: 30301 Cov.: 32

Gnomad AFR AF: 0.518

Gnomad AMI AF: 0.545

Gnomad AMR AF: 0.501

Gnomad ASJ AF: 0.662

Gnomad EAS AF: 0.759

Gnomad SAS AF: 0.656

Gnomad FIN AF: 0.708

Gnomad MID AF: 0.579

Gnomad NFE AF: 0.692

Gnomad OTH AF: 0.619

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

GnomAD4 genome AF: 0.625 AC: 94986 AN: 152052 Hom.: 30307 Cov.: 32 AF XY: 0.624 AC XY: 46377 AN XY: 74316

African (AFR) AF: 0.517 AC: 21443 AN: 41468

American (AMR) AF: 0.501 AC: 7653 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.662 AC: 2297 AN: 3470

East Asian (EAS) AF: 0.759 AC: 3929 AN: 5176

South Asian (SAS) AF: 0.656 AC: 3158 AN: 4816

European-Finnish (FIN) AF: 0.708 AC: 7493 AN: 10580

Middle Eastern (MID) AF: 0.575 AC: 169 AN: 294

European-Non Finnish (NFE) AF: 0.692 AC: 47035 AN: 67946

Other (OTH) AF: 0.623 AC: 1313 AN: 2106

Alfa AF: 0.639 Hom.: 5504

Bravo AF: 0.605

Asia WGS AF: 0.704 AC: 2450 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.16
DANN	Benign	0.38
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs234440; hg19: chr14-97822893;