14-44700086-C-T

Variant names:

• chr14-44700086-C-T
• rs807331

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 0.758 in 152,062 control chromosomes in the GnomAD database, including 44,249 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 0.76 (44249 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.773
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.909 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: 0.758 AC: 115237 AN: 151944 Hom.: 44205 Cov.: 31

Gnomad AFR AF: 0.807

Gnomad AMI AF: 0.651

Gnomad AMR AF: 0.837

Gnomad ASJ AF: 0.784

Gnomad EAS AF: 0.931

Gnomad SAS AF: 0.815

Gnomad FIN AF: 0.575

Gnomad MID AF: 0.769

Gnomad NFE AF: 0.722

Gnomad OTH AF: 0.775

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

GnomAD4 genome AF: 0.758 AC: 115337 AN: 152062 Hom.: 44249 Cov.: 31 AF XY: 0.754 AC XY: 56071 AN XY: 74328

African (AFR) AF: 0.807 AC: 33471 AN: 41488

American (AMR) AF: 0.838 AC: 12803 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.784 AC: 2722 AN: 3472

East Asian (EAS) AF: 0.931 AC: 4813 AN: 5168

South Asian (SAS) AF: 0.816 AC: 3930 AN: 4818

European-Finnish (FIN) AF: 0.575 AC: 6057 AN: 10536

Middle Eastern (MID) AF: 0.759 AC: 223 AN: 294

European-Non Finnish (NFE) AF: 0.722 AC: 49085 AN: 67982

Other (OTH) AF: 0.778 AC: 1642 AN: 2110

Alfa AF: 0.739 Hom.: 23559

Bravo AF: 0.782

Asia WGS AF: 0.885 AC: 3078 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.35
DANN	Benign	0.71
PhyloP100		-0.77

Splicing

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

Other links and lift over

dbSNP: rs807331; hg19: chr14-45169289;