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. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.398 AC: 16517 AN: 41496

American (AMR) AF: 0.475 AC: 7261 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.494 AC: 1713 AN: 3470

East Asian (EAS) AF: 0.231 AC: 1197 AN: 5184

South Asian (SAS) AF: 0.553 AC: 2669 AN: 4824

European-Finnish (FIN) AF: 0.477 AC: 5044 AN: 10570

Middle Eastern (MID) AF: 0.490 AC: 144 AN: 294

European-Non Finnish (NFE) AF: 0.498 AC: 33871 AN: 67956

Other (OTH) AF: 0.451 AC: 953 AN: 2114

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
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs10227804; hg19: chr7-57337842;