7-44498097-C-T

Position:

• chr7-44498097-C-T

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 0.0765 in 152,248 control chromosomes in the GnomAD database, including 615 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 0.076 (615 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.282

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.116 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.0766 AC: 11652 AN: 152130 Hom.: 615 Cov.: 32

Gnomad AFR AF: 0.0189

Gnomad AMI AF: 0.0429

Gnomad AMR AF: 0.0498

Gnomad ASJ AF: 0.0732

Gnomad EAS AF: 0.000576

Gnomad SAS AF: 0.0373

Gnomad FIN AF: 0.137

Gnomad MID AF: 0.0348

Gnomad NFE AF: 0.118

Gnomad OTH AF: 0.0646

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

GnomAD4 genome AF: 0.0765 AC: 11644 AN: 152248 Hom.: 615 Cov.: 32 AF XY: 0.0752 AC XY: 5598 AN XY: 74442

Gnomad4 AFR AF: 0.0188

Gnomad4 AMR AF: 0.0496

Gnomad4 ASJ AF: 0.0732

Gnomad4 EAS AF: 0.000578

Gnomad4 SAS AF: 0.0371

Gnomad4 FIN AF: 0.137

Gnomad4 NFE AF: 0.118

Gnomad4 OTH AF: 0.0630

Alfa AF: 0.0989 Hom.: 392

Bravo AF: 0.0658

Asia WGS AF: 0.0190 AC: 67 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	4.0
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10234070; hg19: chr7-44537696;