rs10244884

chr7-30932180-T-Cchr7-30932180-T-G

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 0.477 in 152,092 control chromosomes in the GnomAD database, including 17,733 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 0.48 (17733 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.71

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.535 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: 0.476 AC: 72413 AN: 151974 Hom.: 17682 Cov.: 33

Gnomad AFR AF: 0.541

Gnomad AMI AF: 0.466

Gnomad AMR AF: 0.504

Gnomad ASJ AF: 0.459

Gnomad EAS AF: 0.106

Gnomad SAS AF: 0.513

Gnomad FIN AF: 0.357

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.476

Gnomad OTH AF: 0.503

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

GnomAD4 genome AF: 0.477 AC: 72528 AN: 152092 Hom.: 17733 Cov.: 33 AF XY: 0.472 AC XY: 35113 AN XY: 74348

Gnomad4 AFR AF: 0.541

Gnomad4 AMR AF: 0.505

Gnomad4 ASJ AF: 0.459

Gnomad4 EAS AF: 0.107

Gnomad4 SAS AF: 0.514

Gnomad4 FIN AF: 0.357

Gnomad4 NFE AF: 0.476

Gnomad4 OTH AF: 0.502

Alfa AF: 0.476 Hom.: 22102

Bravo AF: 0.490

Asia WGS AF: 0.393 AC: 1367 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
Cadd	Benign	0.059
Dann	Benign	0.29

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10244884; hg19: chr7-30971795;