8-55912826-T-C

Position:

• chr8-55912826-T-C

Variant summary

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

The NM_002350.4(LYN):​c.-5-29029T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.651 in 151,728 control chromosomes in the GnomAD database, including 32,579 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 0.65 (32579 hom., cov: 31)
• Consequence: LYN NM_002350.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.339

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=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.93 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LYN	NM_002350.4	c.-5-29029T>C		intron_variant		ENST00000519728.6	NP_002341.1
LYN	NM_001111097.3	c.-5-29029T>C		intron_variant			NP_001104567.1
LYN	XM_011517529.4	c.-136+32723T>C		intron_variant			XP_011515831.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LYN	ENST00000519728.6	c.-5-29029T>C		intron_variant		1	NM_002350.4	ENSP00000428924.1
LYN	ENST00000520220.6	c.-5-29029T>C		intron_variant		1		ENSP00000428424.1

Frequencies

GnomAD3 genomes AF: 0.652 AC: 98781 AN: 151614 Hom.: 32569 Cov.: 31

Gnomad AFR AF: 0.577

Gnomad AMI AF: 0.580

Gnomad AMR AF: 0.664

Gnomad ASJ AF: 0.593

Gnomad EAS AF: 0.952

Gnomad SAS AF: 0.655

Gnomad FIN AF: 0.731

Gnomad MID AF: 0.532

Gnomad NFE AF: 0.663

Gnomad OTH AF: 0.636

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

GnomAD4 genome AF: 0.651 AC: 98835 AN: 151728 Hom.: 32579 Cov.: 31 AF XY: 0.655 AC XY: 48528 AN XY: 74116

Gnomad4 AFR AF: 0.577

Gnomad4 AMR AF: 0.665

Gnomad4 ASJ AF: 0.593

Gnomad4 EAS AF: 0.952

Gnomad4 SAS AF: 0.655

Gnomad4 FIN AF: 0.731

Gnomad4 NFE AF: 0.663

Gnomad4 OTH AF: 0.641

Alfa AF: 0.653 Hom.: 41000

Bravo AF: 0.646

Asia WGS AF: 0.790 AC: 2735 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	6.0
DANN	Benign	0.66

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: rs1397976; hg19: chr8-56825385;