9-83553777-C-T

Variant summary

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

The XM_017014588.2(FRMD3):c.24+6393G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.805 in 152,100 control chromosomes in the GnomAD database, including 49,735 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 0.81 (49735 hom., cov: 32)
• Consequence: FRMD3 XM_017014588.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02

Genes affected

FRMD3 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.851 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
FRMD3	XM_017014588.2	c.24+6393G>A		intron_variant
FRMD3	XM_024447487.2	c.-142+21133G>A		intron_variant
FRMD3	XM_047423155.1	c.-142+31776G>A		intron_variant

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.805 AC: 122411 AN: 151982 Hom.: 49687 Cov.: 32

Gnomad AFR AF: 0.723

Gnomad AMI AF: 0.911

Gnomad AMR AF: 0.863

Gnomad ASJ AF: 0.823

Gnomad EAS AF: 0.777

Gnomad SAS AF: 0.824

Gnomad FIN AF: 0.729

Gnomad MID AF: 0.829

Gnomad NFE AF: 0.853

Gnomad OTH AF: 0.799

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

GnomAD4 genome AF: 0.805 AC: 122512 AN: 152100 Hom.: 49735 Cov.: 32 AF XY: 0.802 AC XY: 59662 AN XY: 74350

Gnomad4 AFR AF: 0.723

Gnomad4 AMR AF: 0.864

Gnomad4 ASJ AF: 0.823

Gnomad4 EAS AF: 0.776

Gnomad4 SAS AF: 0.825

Gnomad4 FIN AF: 0.729

Gnomad4 NFE AF: 0.853

Gnomad4 OTH AF: 0.802

Alfa AF: 0.845 Hom.: 62482

Bravo AF: 0.811

Asia WGS AF: 0.796 AC: 2769 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
Cadd	Benign	4.0
Dann	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6559732; hg19: chr9-86168692;