chr7-4418076-A-G

Variant names:

• chr7-4418076-A-G
• rs10261581

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 0.281 in 151,978 control chromosomes in the GnomAD database, including 7,640 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 0.28 (7640 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.27
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.487 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: 0.281 AC: 42649 AN: 151858 Hom.: 7611 Cov.: 32

Gnomad AFR AF: 0.492

Gnomad AMI AF: 0.0835

Gnomad AMR AF: 0.271

Gnomad ASJ AF: 0.163

Gnomad EAS AF: 0.297

Gnomad SAS AF: 0.388

Gnomad FIN AF: 0.194

Gnomad MID AF: 0.290

Gnomad NFE AF: 0.169

Gnomad OTH AF: 0.250

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

GnomAD4 genome AF: 0.281 AC: 42731 AN: 151978 Hom.: 7640 Cov.: 32 AF XY: 0.286 AC XY: 21215 AN XY: 74268

African (AFR) AF: 0.493 AC: 20415 AN: 41422

American (AMR) AF: 0.271 AC: 4148 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.163 AC: 565 AN: 3468

East Asian (EAS) AF: 0.297 AC: 1529 AN: 5148

South Asian (SAS) AF: 0.388 AC: 1865 AN: 4808

European-Finnish (FIN) AF: 0.194 AC: 2048 AN: 10564

Middle Eastern (MID) AF: 0.291 AC: 85 AN: 292

European-Non Finnish (NFE) AF: 0.169 AC: 11475 AN: 67972

Other (OTH) AF: 0.249 AC: 525 AN: 2112

Alfa AF: 0.211 Hom.: 13355

Bravo AF: 0.291

Asia WGS AF: 0.344 AC: 1196 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.96
DANN	Benign	0.38
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs10261581; hg19: chr7-4457707;