7-28135367-T-C

Position:

• chr7-28135367-T-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_175061.4(JAZF1):​c.115+45096A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.32 in 152,170 control chromosomes in the GnomAD database, including 9,847 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 0.32 (9847 hom., cov: 33)
• Consequence: JAZF1 NM_175061.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.134

Genes affected

JAZF1 (HGNC:28917): (JAZF zinc finger 1) This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.943 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
JAZF1	NM_175061.4	c.115+45096A>G		intron_variant		ENST00000283928.10	NP_778231.2
JAZF1	XM_047420024.1	c.115+45096A>G		intron_variant			XP_047275980.1
JAZF1	XM_047420026.1	c.-78+44463A>G		intron_variant			XP_047275982.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
JAZF1	ENST00000283928.10	c.115+45096A>G		intron_variant		1	NM_175061.4	ENSP00000283928.5
JAZF1	ENST00000452993.5	n.115+45096A>G		intron_variant		4		ENSP00000415984.1
JAZF1	ENST00000454041.1	n.170+45096A>G		intron_variant		5
JAZF1	ENST00000649905.1	n.116-33563A>G		intron_variant				ENSP00000497321.1

Frequencies

GnomAD3 genomes AF: 0.319 AC: 48553 AN: 152052 Hom.: 9815 Cov.: 33

Gnomad AFR AF: 0.411

Gnomad AMI AF: 0.252

Gnomad AMR AF: 0.390

Gnomad ASJ AF: 0.279

Gnomad EAS AF: 0.966

Gnomad SAS AF: 0.514

Gnomad FIN AF: 0.178

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.210

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.320 AC: 48635 AN: 152170 Hom.: 9847 Cov.: 33 AF XY: 0.327 AC XY: 24293 AN XY: 74404

Gnomad4 AFR AF: 0.412

Gnomad4 AMR AF: 0.390

Gnomad4 ASJ AF: 0.279

Gnomad4 EAS AF: 0.966

Gnomad4 SAS AF: 0.513

Gnomad4 FIN AF: 0.178

Gnomad4 NFE AF: 0.210

Gnomad4 OTH AF: 0.312

Alfa AF: 0.276 Hom.: 2051

Bravo AF: 0.344

Asia WGS AF: 0.716 AC: 2488 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	2.4
DANN	Benign	0.66

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs67250450; hg19: chr7-28174986; COSMIC: COSV52240109;