rs10277279

Variant names:

• chr7-84896204-G-A
• rs10277279

Your query was ambiguous. Multiple possible variants found:

• chr7-84896204-G-A
• chr7-84896204-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 0.337 in 151,976 control chromosomes in the GnomAD database, including 9,973 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 0.34 (9973 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.572
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.545 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: 0.337 AC: 51123 AN: 151858 Hom.: 9941 Cov.: 32

Gnomad AFR AF: 0.550

Gnomad AMI AF: 0.233

Gnomad AMR AF: 0.271

Gnomad ASJ AF: 0.255

Gnomad EAS AF: 0.312

Gnomad SAS AF: 0.228

Gnomad FIN AF: 0.174

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.262

Gnomad OTH AF: 0.318

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

GnomAD4 genome AF: 0.337 AC: 51201 AN: 151976 Hom.: 9973 Cov.: 32 AF XY: 0.331 AC XY: 24612 AN XY: 74266

African (AFR) AF: 0.551 AC: 22850 AN: 41472

American (AMR) AF: 0.271 AC: 4135 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.255 AC: 885 AN: 3470

East Asian (EAS) AF: 0.312 AC: 1606 AN: 5150

South Asian (SAS) AF: 0.227 AC: 1093 AN: 4816

European-Finnish (FIN) AF: 0.174 AC: 1842 AN: 10560

Middle Eastern (MID) AF: 0.296 AC: 87 AN: 294

European-Non Finnish (NFE) AF: 0.262 AC: 17820 AN: 67946

Other (OTH) AF: 0.320 AC: 671 AN: 2098

Alfa AF: 0.278 Hom.: 3324

Bravo AF: 0.349

Asia WGS AF: 0.275 AC: 954 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	5.8
DANN	Benign	0.31
PhyloP100		0.57

Splicing

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

Other links and lift over

dbSNP: rs10277279; hg19: chr7-84525520;