7-97095194-T-G

Variant names:

• chr7-97095194-T-G
• rs1880733

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 0.944 in 152,270 control chromosomes in the GnomAD database, including 67,858 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 0.94 (67858 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.267
• Publications: 1 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 (EAS) allele frequency at 95% confidence interval = 0.977 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: 0.943 AC: 143554 AN: 152152 Hom.: 67798 Cov.: 32

Gnomad AFR AF: 0.985

Gnomad AMI AF: 0.818

Gnomad AMR AF: 0.945

Gnomad ASJ AF: 0.927

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.944

Gnomad FIN AF: 0.948

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.916

Gnomad OTH AF: 0.935

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

GnomAD4 genome AF: 0.944 AC: 143672 AN: 152270 Hom.: 67858 Cov.: 32 AF XY: 0.946 AC XY: 70413 AN XY: 74450

African (AFR) AF: 0.985 AC: 40937 AN: 41574

American (AMR) AF: 0.945 AC: 14448 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.927 AC: 3219 AN: 3472

East Asian (EAS) AF: 0.999 AC: 5161 AN: 5164

South Asian (SAS) AF: 0.943 AC: 4549 AN: 4822

European-Finnish (FIN) AF: 0.948 AC: 10057 AN: 10610

Middle Eastern (MID) AF: 0.925 AC: 272 AN: 294

European-Non Finnish (NFE) AF: 0.916 AC: 62311 AN: 68026

Other (OTH) AF: 0.936 AC: 1975 AN: 2110

Alfa AF: 0.953 Hom.: 20089

Bravo AF: 0.945

Asia WGS AF: 0.975 AC: 3392 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	7.6
DANN	Benign	0.43
PhyloP100		0.27

Splicing

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

Other links and lift over

dbSNP: rs1880733; hg19: chr7-96724506;