rs927010

Positions:

• chr6-111826120-C-G
• chr6-111826120-C-T

Variant summary

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

The NM_002037.5(FYN):​c.-82+20469G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.81 in 152,148 control chromosomes in the GnomAD database, including 50,981 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 (50981 hom., cov: 31)
• Consequence: FYN NM_002037.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.541

Genes affected

FYN (HGNC:4037): (FYN proto-oncogene, Src family tyrosine kinase) This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.948 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
FYN	NM_002037.5	c.-82+20469G>C		intron_variant		ENST00000354650.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
FYN	ENST00000354650.7	c.-82+20469G>C		intron_variant		1	NM_002037.5	P3

Frequencies

GnomAD3 genomes AF: 0.810 AC: 123186 AN: 152030 Hom.: 50915 Cov.: 31

Gnomad AFR AF: 0.956

Gnomad AMI AF: 0.591

Gnomad AMR AF: 0.867

Gnomad ASJ AF: 0.762

Gnomad EAS AF: 0.922

Gnomad SAS AF: 0.906

Gnomad FIN AF: 0.644

Gnomad MID AF: 0.861

Gnomad NFE AF: 0.724

Gnomad OTH AF: 0.830

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

GnomAD4 genome AF: 0.810 AC: 123310 AN: 152148 Hom.: 50981 Cov.: 31 AF XY: 0.810 AC XY: 60235 AN XY: 74350

Gnomad4 AFR AF: 0.956

Gnomad4 AMR AF: 0.867

Gnomad4 ASJ AF: 0.762

Gnomad4 EAS AF: 0.922

Gnomad4 SAS AF: 0.907

Gnomad4 FIN AF: 0.644

Gnomad4 NFE AF: 0.724

Gnomad4 OTH AF: 0.832

Alfa AF: 0.757 Hom.: 5148

Bravo AF: 0.831

Asia WGS AF: 0.904 AC: 3144 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	7.6
DANN	Benign	0.46

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: rs927010; hg19: chr6-112147323; COSMIC: COSV57612069;