rs2719266

chr8-55962144-G-A

Variant summary

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

The NM_002350.4(LYN):c.791-4571G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.43 in 151,798 control chromosomes in the GnomAD database, including 14,383 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 0.43 (14383 hom., cov: 32)
• Consequence: LYN NM_002350.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.83

Genes affected

LYN (HGNC:6735): (LYN proto-oncogene, Src family tyrosine kinase) This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

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 = 0.452 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LYN	NM_002350.4	c.791-4571G>A		intron_variant		ENST00000519728.6
LYN	NM_001111097.3	c.728-4571G>A		intron_variant
LYN	XM_011517529.4	c.524-4571G>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LYN	ENST00000519728.6	c.791-4571G>A		intron_variant		1	NM_002350.4	P4
LYN	ENST00000520220.6	c.728-4571G>A		intron_variant		1		A1
LYN	ENST00000420292.1	n.199-4571G>A		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.430 AC: 65173 AN: 151680 Hom.: 14378 Cov.: 32

Gnomad AFR AF: 0.457

Gnomad AMI AF: 0.677

Gnomad AMR AF: 0.380

Gnomad ASJ AF: 0.485

Gnomad EAS AF: 0.271

Gnomad SAS AF: 0.289

Gnomad FIN AF: 0.346

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.451

Gnomad OTH AF: 0.478

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

GnomAD4 genome AF: 0.430 AC: 65213 AN: 151798 Hom.: 14383 Cov.: 32 AF XY: 0.420 AC XY: 31167 AN XY: 74174

Gnomad4 AFR AF: 0.457

Gnomad4 AMR AF: 0.379

Gnomad4 ASJ AF: 0.485

Gnomad4 EAS AF: 0.270

Gnomad4 SAS AF: 0.289

Gnomad4 FIN AF: 0.346

Gnomad4 NFE AF: 0.451

Gnomad4 OTH AF: 0.479

Alfa AF: 0.444 Hom.: 2993

Bravo AF: 0.434

Asia WGS AF: 0.292 AC: 1016 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	0.0070
Dann	Benign	0.59

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: rs2719266; hg19: chr8-56874703;