rs7168353

Variant names:

• chr15-93095172-G-C
• rs7168353
• ENST00000711606.1:n.87+5683G>C

Your query was ambiguous. Multiple possible variants found:

• chr15-93095172-G-C
• chr15-93095172-G-T

Variant summary

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

The ENST00000711606.1(ENSG00000257060):​n.87+5683G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.191 in 152,144 control chromosomes in the GnomAD database, including 2,950 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 0.19 (2950 hom., cov: 32)
• Consequence: ENSG00000257060 ENST00000711606.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.252
• Publications: 8 publications found

Genes affected

ENSG00000257060 (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 (NFE) allele frequency at 95% confidence interval = 0.22 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000711606.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000257060	ENST00000711606.1		n.87+5683G>C		intron	N/A
	ENSG00000257060	ENST00000791051.1		n.83+5683G>C		intron	N/A
	ENSG00000257060	ENST00000791058.1		n.65+5683G>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.191 AC: 29007 AN: 152026 Hom.: 2946 Cov.: 32

Gnomad AFR AF: 0.139

Gnomad AMI AF: 0.325

Gnomad AMR AF: 0.145

Gnomad ASJ AF: 0.262

Gnomad EAS AF: 0.158

Gnomad SAS AF: 0.220

Gnomad FIN AF: 0.214

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.223

Gnomad OTH AF: 0.208

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

GnomAD4 genome AF: 0.191 AC: 29005 AN: 152144 Hom.: 2950 Cov.: 32 AF XY: 0.188 AC XY: 14001 AN XY: 74380

African (AFR) AF: 0.139 AC: 5765 AN: 41516

American (AMR) AF: 0.144 AC: 2205 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.262 AC: 909 AN: 3470

East Asian (EAS) AF: 0.158 AC: 817 AN: 5170

South Asian (SAS) AF: 0.221 AC: 1065 AN: 4822

European-Finnish (FIN) AF: 0.214 AC: 2270 AN: 10590

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

European-Non Finnish (NFE) AF: 0.223 AC: 15150 AN: 67966

Other (OTH) AF: 0.209 AC: 441 AN: 2114

Alfa AF: 0.196 Hom.: 1744

Bravo AF: 0.181

Asia WGS AF: 0.200 AC: 698 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.5
DANN	Benign	0.48
PhyloP100		0.25

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs7168353;

hg19: chr15-93638401;