8-144445154-T-C

Position:

• chr8-144445154-T-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.98 in 152,350 control chromosomes in the GnomAD database, including 73,354 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 (73354 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.474

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.993 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.980 AC: 149256 AN: 152232 Hom.: 73301 Cov.: 33

Gnomad AFR AF: 0.984

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.934

Gnomad ASJ AF: 0.997

Gnomad EAS AF: 0.784

Gnomad SAS AF: 0.997

Gnomad FIN AF: 0.997

Gnomad MID AF: 1.00

Gnomad NFE AF: 0.999

Gnomad OTH AF: 0.982

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

GnomAD4 genome AF: 0.980 AC: 149366 AN: 152350 Hom.: 73354 Cov.: 33 AF XY: 0.978 AC XY: 72855 AN XY: 74498

Gnomad4 AFR AF: 0.984

Gnomad4 AMR AF: 0.933

Gnomad4 ASJ AF: 0.997

Gnomad4 EAS AF: 0.783

Gnomad4 SAS AF: 0.997

Gnomad4 FIN AF: 0.997

Gnomad4 NFE AF: 0.999

Gnomad4 OTH AF: 0.983

Alfa AF: 0.991 Hom.: 9284

Bravo AF: 0.974

Asia WGS AF: 0.936 AC: 3257 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.8
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7459910; hg19: chr8-145670537;