9-83564648-T-C

Position:

• chr9-83564648-T-C

Variant summary

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

The XM_024447487.2(FRMD3):​c.-142+10262A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.804 in 152,206 control chromosomes in the GnomAD database, including 49,828 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 0.80 (49828 hom., cov: 33)
• Consequence: FRMD3 XM_024447487.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.41

Genes affected

FRMD3 (HGNC:24125): (FERM domain containing 3) The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.936 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
FRMD3	XM_024447487.2	c.-142+10262A>G		intron_variant			XP_024303255.1
FRMD3	XM_047423155.1	c.-142+20905A>G		intron_variant			XP_047279111.1
		n.83564648T>C		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.803 AC: 122197 AN: 152088 Hom.: 49756 Cov.: 33

Gnomad AFR AF: 0.944

Gnomad AMI AF: 0.848

Gnomad AMR AF: 0.747

Gnomad ASJ AF: 0.729

Gnomad EAS AF: 0.621

Gnomad SAS AF: 0.788

Gnomad FIN AF: 0.679

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.769

Gnomad OTH AF: 0.790

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

GnomAD4 genome AF: 0.804 AC: 122328 AN: 152206 Hom.: 49828 Cov.: 33 AF XY: 0.797 AC XY: 59339 AN XY: 74414

Gnomad4 AFR AF: 0.944

Gnomad4 AMR AF: 0.747

Gnomad4 ASJ AF: 0.729

Gnomad4 EAS AF: 0.621

Gnomad4 SAS AF: 0.789

Gnomad4 FIN AF: 0.679

Gnomad4 NFE AF: 0.769

Gnomad4 OTH AF: 0.793

Alfa AF: 0.771 Hom.: 96533

Bravo AF: 0.812

Asia WGS AF: 0.752 AC: 2615 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.9
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4451390; hg19: chr9-86179563;