rs7357193

Variant names:

• chr7-94158101-C-A
• rs7357193
• ENST00000834100.1:n.442-28125G>T

Your query was ambiguous. Multiple possible variants found:

• chr7-94158101-C-A
• chr7-94158101-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000834100.1(ENSG00000285090):​n.442-28125G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.425 in 151,760 control chromosomes in the GnomAD database, including 15,416 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 0.43 (15416 hom., cov: 32)
• Consequence: ENSG00000285090 ENST00000834100.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.84
• Publications: 2 publications found

Genes affected

ENSG00000285090 (HGNC:):

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 = 0.646 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
ENSG00000285090	ENST00000834100.1	n.442-28125G>T		intron_variant	Intron 5 of 6

Frequencies

GnomAD3 genomes AF: 0.425 AC: 64449 AN: 151640 Hom.: 15387 Cov.: 32

Gnomad AFR AF: 0.652

Gnomad AMI AF: 0.288

Gnomad AMR AF: 0.345

Gnomad ASJ AF: 0.373

Gnomad EAS AF: 0.162

Gnomad SAS AF: 0.385

Gnomad FIN AF: 0.343

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.347

Gnomad OTH AF: 0.382

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

GnomAD4 genome AF: 0.425 AC: 64543 AN: 151760 Hom.: 15416 Cov.: 32 AF XY: 0.423 AC XY: 31332 AN XY: 74158

African (AFR) AF: 0.652 AC: 27009 AN: 41418

American (AMR) AF: 0.345 AC: 5246 AN: 15220

Ashkenazi Jewish (ASJ) AF: 0.373 AC: 1294 AN: 3470

East Asian (EAS) AF: 0.162 AC: 836 AN: 5146

South Asian (SAS) AF: 0.384 AC: 1849 AN: 4812

European-Finnish (FIN) AF: 0.343 AC: 3600 AN: 10498

Middle Eastern (MID) AF: 0.354 AC: 104 AN: 294

European-Non Finnish (NFE) AF: 0.347 AC: 23533 AN: 67888

Other (OTH) AF: 0.385 AC: 810 AN: 2104

Alfa AF: 0.361 Hom.: 44296

Bravo AF: 0.429

Asia WGS AF: 0.318 AC: 1108 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	0.83
DANN	Benign	0.64
PhyloP100		-2.8

Splicing

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

Other links and lift over

dbSNP: rs7357193; hg19: chr7-93787413;