rs7850258

Variant names:

• chr9-97786731-A-G
• rs7850258
• ENST00000824829.1:n.97A>G

Your query was ambiguous. Multiple possible variants found:

• chr9-97786731-A-G
• chr9-97786731-A-T

Variant summary

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

The ENST00000824829.1(ENSG00000307267):​n.97A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.719 in 152,026 control chromosomes in the GnomAD database, including 39,829 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 0.72 (39829 hom., cov: 31)
• Consequence: ENSG00000307267 ENST00000824829.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.354
• Publications: 40 publications found

Genes affected

ENSG00000307267 (HGNC:):

PTCSC2 (HGNC:44086): (papillary thyroid carcinoma susceptibility candidate 2)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.68).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.868 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000824829.1. 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
	PTCSC2	NR_147055.1		n.777+17520T>C		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000307267	ENST00000824829.1		n.97A>G		non_coding_transcript_exon	Exon 1 of 2
	PTCSC2	ENST00000430058.2	TSL:2	n.330+19109T>C		intron	N/A
	PTCSC2	ENST00000648027.1		n.470+17520T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.720 AC: 109300 AN: 151908 Hom.: 39802 Cov.: 31

Gnomad AFR AF: 0.812

Gnomad AMI AF: 0.479

Gnomad AMR AF: 0.708

Gnomad ASJ AF: 0.678

Gnomad EAS AF: 0.889

Gnomad SAS AF: 0.773

Gnomad FIN AF: 0.669

Gnomad MID AF: 0.718

Gnomad NFE AF: 0.662

Gnomad OTH AF: 0.721

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

GnomAD4 genome AF: 0.719 AC: 109380 AN: 152026 Hom.: 39829 Cov.: 31 AF XY: 0.723 AC XY: 53736 AN XY: 74306

African (AFR) AF: 0.812 AC: 33665 AN: 41478

American (AMR) AF: 0.709 AC: 10822 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.678 AC: 2353 AN: 3470

East Asian (EAS) AF: 0.890 AC: 4599 AN: 5170

South Asian (SAS) AF: 0.772 AC: 3712 AN: 4808

European-Finnish (FIN) AF: 0.669 AC: 7077 AN: 10572

Middle Eastern (MID) AF: 0.718 AC: 211 AN: 294

European-Non Finnish (NFE) AF: 0.662 AC: 44990 AN: 67944

Other (OTH) AF: 0.719 AC: 1514 AN: 2106

Alfa AF: 0.686 Hom.: 121174

Bravo AF: 0.727

Asia WGS AF: 0.803 AC: 2794 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.68
CADD	Benign	12
DANN	Benign	0.77
PhyloP100		0.35

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: rs7850258;

hg19: chr9-100549013;