rs849140

Positions:

• chr7-28144083-T-C

Variant summary

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

The ENST00000283928.10(JAZF1):​c.115+36380A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.581 in 152,062 control chromosomes in the GnomAD database, including 25,895 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 0.58 (25895 hom., cov: 32)
• Consequence: JAZF1 ENST00000283928.10 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.937

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 = 0.681 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
JAZF1	NM_175061.4	c.115+36380A>G		intron_variant		ENST00000283928.10	NP_778231.2
JAZF1	XM_047420024.1	c.115+36380A>G		intron_variant			XP_047275980.1
JAZF1	XM_047420026.1	c.-78+35747A>G		intron_variant			XP_047275982.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
JAZF1	ENST00000283928.10	c.115+36380A>G		intron_variant		1	NM_175061.4	ENSP00000283928	P1
JAZF1	ENST00000452993.5	c.115+36380A>G		intron_variant, NMD_transcript_variant		4		ENSP00000415984
JAZF1	ENST00000649905.1	c.115+36380A>G		intron_variant, NMD_transcript_variant				ENSP00000497321
JAZF1	ENST00000454041.1	n.170+36380A>G		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.581 AC: 88228 AN: 151944 Hom.: 25872 Cov.: 32

Gnomad AFR AF: 0.522

Gnomad AMI AF: 0.637

Gnomad AMR AF: 0.608

Gnomad ASJ AF: 0.701

Gnomad EAS AF: 0.700

Gnomad SAS AF: 0.465

Gnomad FIN AF: 0.605

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.598

Gnomad OTH AF: 0.587

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

GnomAD4 genome AF: 0.581 AC: 88304 AN: 152062 Hom.: 25895 Cov.: 32 AF XY: 0.578 AC XY: 42941 AN XY: 74308

Gnomad4 AFR AF: 0.523

Gnomad4 AMR AF: 0.608

Gnomad4 ASJ AF: 0.701

Gnomad4 EAS AF: 0.700

Gnomad4 SAS AF: 0.465

Gnomad4 FIN AF: 0.605

Gnomad4 NFE AF: 0.599

Gnomad4 OTH AF: 0.587

Alfa AF: 0.595 Hom.: 38031

Bravo AF: 0.581

Asia WGS AF: 0.583 AC: 2027 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	6.7
DANN	Benign	0.65

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: rs849140; hg19: chr7-28183702;