rs7925055

Variant names:

• chr11-72134050-A-G
• rs7925055
• ENST00000622388.4:c.-6-1897A>G

Variant summary

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

The ENST00000622388.4(FOLR3):​c.-6-1897A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0813 in 152,222 control chromosomes in the GnomAD database, including 746 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 0.081 (746 hom., cov: 32)
• Consequence: FOLR3 ENST00000622388.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.06

Genes affected

FOLR3 (HGNC:3795): (folate receptor gamma) This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.156 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
FOLR3	ENST00000622388.4	c.-6-1897A>G		intron_variant	Intron 2 of 5	5		ENSP00000481833.1

Frequencies

GnomAD3 genomes AF: 0.0811 AC: 12338 AN: 152104 Hom.: 739 Cov.: 32

Gnomad AFR AF: 0.159

Gnomad AMI AF: 0.0132

Gnomad AMR AF: 0.0439

Gnomad ASJ AF: 0.0482

Gnomad EAS AF: 0.0156

Gnomad SAS AF: 0.0166

Gnomad FIN AF: 0.114

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.0501

Gnomad OTH AF: 0.0670

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

GnomAD4 genome AF: 0.0813 AC: 12374 AN: 152222 Hom.: 746 Cov.: 32 AF XY: 0.0826 AC XY: 6147 AN XY: 74444

Gnomad4 AFR AF: 0.159

Gnomad4 AMR AF: 0.0438

Gnomad4 ASJ AF: 0.0482

Gnomad4 EAS AF: 0.0158

Gnomad4 SAS AF: 0.0166

Gnomad4 FIN AF: 0.114

Gnomad4 NFE AF: 0.0501

Gnomad4 OTH AF: 0.0672

Alfa AF: 0.0786 Hom.: 76

Bravo AF: 0.0792

Asia WGS AF: 0.0370 AC: 127 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	11
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7925055; hg19: chr11-71845096;