rs10227804

Variant names:

• chr7-57270135-A-G
• rs10227804

Your query was ambiguous. Multiple possible variants found:

• chr7-57270135-A-G
• chr7-57270135-A-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 0.459 in 152,102 control chromosomes in the GnomAD database, including 16,466 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 0.46 (16466 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.05

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.536 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: 0.460 AC: 69849 AN: 151980 Hom.: 16463 Cov.: 33

Gnomad AFR AF: 0.398

Gnomad AMI AF: 0.554

Gnomad AMR AF: 0.475

Gnomad ASJ AF: 0.494

Gnomad EAS AF: 0.231

Gnomad SAS AF: 0.553

Gnomad FIN AF: 0.477

Gnomad MID AF: 0.491

Gnomad NFE AF: 0.498

Gnomad OTH AF: 0.456

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

GnomAD4 genome AF: 0.459 AC: 69874 AN: 152102 Hom.: 16466 Cov.: 33 AF XY: 0.458 AC XY: 34072 AN XY: 74352

Gnomad4 AFR AF: 0.398

Gnomad4 AMR AF: 0.475

Gnomad4 ASJ AF: 0.494

Gnomad4 EAS AF: 0.231

Gnomad4 SAS AF: 0.553

Gnomad4 FIN AF: 0.477

Gnomad4 NFE AF: 0.498

Gnomad4 OTH AF: 0.451

Alfa AF: 0.477 Hom.: 2154

Bravo AF: 0.454

Asia WGS AF: 0.377 AC: 1308 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	4.3
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10227804; hg19: chr7-57337842;