2-217115710-G-A

Variant names:

• chr2-217115710-G-A
• rs12466929
• ENST00000695932.1:n.509+121692G>A

Variant summary

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

The ENST00000695932.1(TESHL):​n.509+121692G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.197 in 151,886 control chromosomes in the GnomAD database, including 3,794 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 0.20 (3794 hom., cov: 32)
• Consequence: TESHL ENST00000695932.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.20
• Publications: 6 publications found

Genes affected

TESHL (HGNC:52740): (testicular germ cell expressed HSF2 interacting lncRNA)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.533 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000695932.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TESHL	ENST00000695932.1		n.509+121692G>A		intron	N/A
	TESHL	ENST00000695934.1		n.173-37701G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.197 AC: 29867 AN: 151768 Hom.: 3786 Cov.: 32

Gnomad AFR AF: 0.301

Gnomad AMI AF: 0.166

Gnomad AMR AF: 0.208

Gnomad ASJ AF: 0.213

Gnomad EAS AF: 0.550

Gnomad SAS AF: 0.233

Gnomad FIN AF: 0.197

Gnomad MID AF: 0.175

Gnomad NFE AF: 0.102

Gnomad OTH AF: 0.182

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

GnomAD4 genome AF: 0.197 AC: 29904 AN: 151886 Hom.: 3794 Cov.: 32 AF XY: 0.205 AC XY: 15226 AN XY: 74244

African (AFR) AF: 0.301 AC: 12470 AN: 41416

American (AMR) AF: 0.208 AC: 3169 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.213 AC: 739 AN: 3466

East Asian (EAS) AF: 0.550 AC: 2819 AN: 5124

South Asian (SAS) AF: 0.233 AC: 1119 AN: 4806

European-Finnish (FIN) AF: 0.197 AC: 2077 AN: 10532

Middle Eastern (MID) AF: 0.185 AC: 54 AN: 292

European-Non Finnish (NFE) AF: 0.102 AC: 6923 AN: 67970

Other (OTH) AF: 0.182 AC: 383 AN: 2108

Alfa AF: 0.128 Hom.: 3206

Bravo AF: 0.205

Asia WGS AF: 0.350 AC: 1216 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.55
DANN	Benign	0.53
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs12466929; hg19: chr2-217980433;