rs17231138

chr16-69593188-A-Cchr16-69593188-A-G

Variant summary

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

The NM_138713.4(NFAT5):c.127+24640A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0589 in 152,234 control chromosomes in the GnomAD database, including 290 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 0.059 (290 hom., cov: 32)
• Consequence: NFAT5 NM_138713.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.884

Genes affected

NFAT5 (HGNC:7774): (nuclear factor of activated T cells 5) The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0713 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
NFAT5	NM_138713.4	c.127+24640A>C		intron_variant		ENST00000349945.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
NFAT5	ENST00000349945.7	c.127+24640A>C		intron_variant		1	NM_138713.4	A2

Frequencies

GnomAD3 genomes AF: 0.0589 AC: 8960 AN: 152116 Hom.: 288 Cov.: 32

Gnomad AFR AF: 0.0441

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.0510

Gnomad ASJ AF: 0.0752

Gnomad EAS AF: 0.000769

Gnomad SAS AF: 0.0252

Gnomad FIN AF: 0.0686

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.0730

Gnomad OTH AF: 0.0642

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

GnomAD4 genome AF: 0.0589 AC: 8971 AN: 152234 Hom.: 290 Cov.: 32 AF XY: 0.0575 AC XY: 4279 AN XY: 74424

Gnomad4 AFR AF: 0.0444

Gnomad4 AMR AF: 0.0508

Gnomad4 ASJ AF: 0.0752

Gnomad4 EAS AF: 0.000771

Gnomad4 SAS AF: 0.0251

Gnomad4 FIN AF: 0.0686

Gnomad4 NFE AF: 0.0730

Gnomad4 OTH AF: 0.0640

Alfa AF: 0.0327 Hom.: 21

Bravo AF: 0.0588

Asia WGS AF: 0.0180 AC: 65 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
Cadd	Benign	4.2
Dann	Benign	0.82

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: rs17231138; hg19: chr16-69627091;