19-17183487-C-T

Position:

• chr19-17183487-C-T

Variant summary

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

The NM_004145.4(MYO9B):​c.2334-342C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.701 in 152,112 control chromosomes in the GnomAD database, including 38,979 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 0.70 (38979 hom., cov: 32)
• Consequence: MYO9B NM_004145.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.69

Genes affected

MYO9B (HGNC:7609): (myosin IXB) This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

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 (AFR) allele frequency at 95% confidence interval = 0.91 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MYO9B	NM_004145.4	c.2334-342C>T		intron_variant		ENST00000682292.1
MYO9B	NM_001130065.2	c.2334-342C>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MYO9B	ENST00000682292.1	c.2334-342C>T		intron_variant			NM_004145.4	A2

Frequencies

GnomAD3 genomes AF: 0.701 AC: 106539 AN: 151994 Hom.: 38927 Cov.: 32

Gnomad AFR AF: 0.917

Gnomad AMI AF: 0.554

Gnomad AMR AF: 0.737

Gnomad ASJ AF: 0.488

Gnomad EAS AF: 0.740

Gnomad SAS AF: 0.655

Gnomad FIN AF: 0.617

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.588

Gnomad OTH AF: 0.687

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

GnomAD4 genome AF: 0.701 AC: 106645 AN: 152112 Hom.: 38979 Cov.: 32 AF XY: 0.701 AC XY: 52144 AN XY: 74362

Gnomad4 AFR AF: 0.918

Gnomad4 AMR AF: 0.738

Gnomad4 ASJ AF: 0.488

Gnomad4 EAS AF: 0.740

Gnomad4 SAS AF: 0.654

Gnomad4 FIN AF: 0.617

Gnomad4 NFE AF: 0.588

Gnomad4 OTH AF: 0.681

Alfa AF: 0.602 Hom.: 55588

Bravo AF: 0.724

Asia WGS AF: 0.685 AC: 2380 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	0.36
DANN	Benign	0.36

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: rs2305767; hg19: chr19-17294296;