rs10229457

Variant names:

• chr7-22761181-G-A
• rs10229457

Your query was ambiguous. Multiple possible variants found:

• chr7-22761181-G-A
• chr7-22761181-G-C
• chr7-22761181-G-T

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 0.444 in 152,060 control chromosomes in the GnomAD database, including 18,178 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 0.44 (18178 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.720
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.917 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: 0.444 AC: 67451 AN: 151942 Hom.: 18137 Cov.: 32

Gnomad AFR AF: 0.654

Gnomad AMI AF: 0.262

Gnomad AMR AF: 0.548

Gnomad ASJ AF: 0.501

Gnomad EAS AF: 0.939

Gnomad SAS AF: 0.622

Gnomad FIN AF: 0.211

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.277

Gnomad OTH AF: 0.473

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

GnomAD4 genome AF: 0.444 AC: 67551 AN: 152060 Hom.: 18178 Cov.: 32 AF XY: 0.451 AC XY: 33489 AN XY: 74330

African (AFR) AF: 0.654 AC: 27116 AN: 41466

American (AMR) AF: 0.549 AC: 8379 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.501 AC: 1739 AN: 3468

East Asian (EAS) AF: 0.939 AC: 4858 AN: 5172

South Asian (SAS) AF: 0.622 AC: 2998 AN: 4820

European-Finnish (FIN) AF: 0.211 AC: 2234 AN: 10570

Middle Eastern (MID) AF: 0.595 AC: 175 AN: 294

European-Non Finnish (NFE) AF: 0.277 AC: 18804 AN: 67978

Other (OTH) AF: 0.479 AC: 1010 AN: 2108

Alfa AF: 0.334 Hom.: 8656

Bravo AF: 0.478

Asia WGS AF: 0.778 AC: 2701 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	7.1
DANN	Benign	0.76
PhyloP100		0.72

Splicing

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

Other links and lift over

dbSNP: rs10229457; hg19: chr7-22800800;