7-26572714-C-T

Variant names:

• chr7-26572714-C-T
• rs4722613

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 0.122 in 152,190 control chromosomes in the GnomAD database, including 1,203 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 0.12 (1203 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00900
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.132 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: 0.122 AC: 18586 AN: 152072 Hom.: 1199 Cov.: 33

Gnomad AFR AF: 0.109

Gnomad AMI AF: 0.181

Gnomad AMR AF: 0.0922

Gnomad ASJ AF: 0.172

Gnomad EAS AF: 0.119

Gnomad SAS AF: 0.117

Gnomad FIN AF: 0.123

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.134

Gnomad OTH AF: 0.113

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

GnomAD4 genome AF: 0.122 AC: 18598 AN: 152190 Hom.: 1203 Cov.: 33 AF XY: 0.122 AC XY: 9103 AN XY: 74410

African (AFR) AF: 0.109 AC: 4544 AN: 41516

American (AMR) AF: 0.0919 AC: 1406 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.172 AC: 596 AN: 3470

East Asian (EAS) AF: 0.119 AC: 617 AN: 5182

South Asian (SAS) AF: 0.117 AC: 563 AN: 4822

European-Finnish (FIN) AF: 0.123 AC: 1302 AN: 10582

Middle Eastern (MID) AF: 0.119 AC: 35 AN: 294

European-Non Finnish (NFE) AF: 0.134 AC: 9134 AN: 68004

Other (OTH) AF: 0.112 AC: 236 AN: 2114

Alfa AF: 0.131 Hom.: 2693

Bravo AF: 0.119

Asia WGS AF: 0.104 AC: 362 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.8
DANN	Benign	0.77
PhyloP100		0.0090

Splicing

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

Other links and lift over

dbSNP: rs4722613; hg19: chr7-26612333;