rs10244884

Variant names:

• chr7-30932180-T-C
• rs10244884

Your query was ambiguous. Multiple possible variants found:

• chr7-30932180-T-C
• chr7-30932180-T-G

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 0.477 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
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.541 AC: 22449 AN: 41466

American (AMR) AF: 0.505 AC: 7722 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.459 AC: 1589 AN: 3464

East Asian (EAS) AF: 0.107 AC: 553 AN: 5174

South Asian (SAS) AF: 0.514 AC: 2472 AN: 4814

European-Finnish (FIN) AF: 0.357 AC: 3776 AN: 10586

Middle Eastern (MID) AF: 0.466 AC: 137 AN: 294

European-Non Finnish (NFE) AF: 0.476 AC: 32349 AN: 67992

Other (OTH) AF: 0.502 AC: 1058 AN: 2108

Alfa AF: 0.480 Hom.: 28535

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
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs10244884; hg19: chr7-30971795;