rs1384449

chr5-44376958-G-Achr5-44376958-G-C

Variant summary

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

The NM_004465.2(FGF10):c.325+11400C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.755 in 152,066 control chromosomes in the GnomAD database, including 43,604 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 0.76 (43604 hom., cov: 31)
• Consequence: FGF10 NM_004465.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.156

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=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.792 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
FGF10	NM_004465.2	c.325+11400C>T		intron_variant		ENST00000264664.5
FGF10	XM_005248264.5	c.325+11400C>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
FGF10	ENST00000264664.5	c.325+11400C>T		intron_variant		1	NM_004465.2	P1

Frequencies

GnomAD3 genomes AF: 0.756 AC: 114829 AN: 151952 Hom.: 43589 Cov.: 31

Gnomad AFR AF: 0.711

Gnomad AMI AF: 0.753

Gnomad AMR AF: 0.676

Gnomad ASJ AF: 0.804

Gnomad EAS AF: 0.710

Gnomad SAS AF: 0.775

Gnomad FIN AF: 0.770

Gnomad MID AF: 0.823

Gnomad NFE AF: 0.797

Gnomad OTH AF: 0.773

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

GnomAD4 genome AF: 0.755 AC: 114876 AN: 152066 Hom.: 43604 Cov.: 31 AF XY: 0.756 AC XY: 56246 AN XY: 74354

Gnomad4 AFR AF: 0.711

Gnomad4 AMR AF: 0.675

Gnomad4 ASJ AF: 0.804

Gnomad4 EAS AF: 0.710

Gnomad4 SAS AF: 0.775

Gnomad4 FIN AF: 0.770

Gnomad4 NFE AF: 0.797

Gnomad4 OTH AF: 0.767

Alfa AF: 0.783 Hom.: 30410

Bravo AF: 0.744

Asia WGS AF: 0.643 AC: 2238 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	0.88
Dann	Benign	0.91

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: rs1384449; hg19: chr5-44377060;