rs1979079

chr5-44300548-A-G

Variant summary

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

The NM_004465.2(FGF10):c.*4447T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.217 in 152,216 control chromosomes in the GnomAD database, including 3,725 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 0.22 (3725 hom., cov: 32)
• Consequence: FGF10 NM_004465.2 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.150

Genes affected

FGF10 (HGNC:3666): (fibroblast growth factor 10) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.309 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
FGF10	NM_004465.2	c.*4447T>C		3_prime_UTR_variant	3/3	ENST00000264664.5
FGF10	XM_005248264.5	c.*4447T>C		3_prime_UTR_variant	4/4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
FGF10	ENST00000264664.5	c.*4447T>C		3_prime_UTR_variant	3/3	1	NM_004465.2	P1

Frequencies

GnomAD3 genomes AF: 0.217 AC: 32980 AN: 152096 Hom.: 3718 Cov.: 32

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.296

Gnomad AMR AF: 0.316

Gnomad ASJ AF: 0.176

Gnomad EAS AF: 0.171

Gnomad SAS AF: 0.209

Gnomad FIN AF: 0.205

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.202

Gnomad OTH AF: 0.207

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

GnomAD4 genome AF: 0.217 AC: 33032 AN: 152216 Hom.: 3725 Cov.: 32 AF XY: 0.215 AC XY: 15962 AN XY: 74414

Gnomad4 AFR AF: 0.217

Gnomad4 AMR AF: 0.316

Gnomad4 ASJ AF: 0.176

Gnomad4 EAS AF: 0.170

Gnomad4 SAS AF: 0.208

Gnomad4 FIN AF: 0.205

Gnomad4 NFE AF: 0.202

Gnomad4 OTH AF: 0.213

Alfa AF: 0.205 Hom.: 906

Bravo AF: 0.230

Asia WGS AF: 0.240 AC: 835 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
Cadd	Benign	2.6
Dann	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1979079; hg19: chr5-44300650;