rs8094647

Variant names:

• chr18-49938782-G-A
• rs8094647
• NM_001080467.3:c.1753-1385C>T

Variant summary

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

The NM_001080467.3(MYO5B):​c.1753-1385C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.196 in 152,084 control chromosomes in the GnomAD database, including 3,673 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 0.20 (3673 hom., cov: 31)
• Consequence: MYO5B NM_001080467.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0460

Genes affected

MYO5B (HGNC:7603): (myosin VB) The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]

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 (AFR) allele frequency at 95% confidence interval = 0.348 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MYO5B	NM_001080467.3	c.1753-1385C>T		intron_variant	Intron 14 of 39	ENST00000285039.12	NP_001073936.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MYO5B	ENST00000285039.12	c.1753-1385C>T		intron_variant	Intron 14 of 39	1	NM_001080467.3	ENSP00000285039.6
MYO5B	ENST00000697219.1	c.1549-1385C>T		intron_variant	Intron 12 of 37			ENSP00000513188.1

Frequencies

GnomAD3 genomes AF: 0.196 AC: 29710 AN: 151966 Hom.: 3669 Cov.: 31

Gnomad AFR AF: 0.353

Gnomad AMI AF: 0.0592

Gnomad AMR AF: 0.129

Gnomad ASJ AF: 0.115

Gnomad EAS AF: 0.0614

Gnomad SAS AF: 0.0954

Gnomad FIN AF: 0.148

Gnomad MID AF: 0.127

Gnomad NFE AF: 0.147

Gnomad OTH AF: 0.167

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

GnomAD4 genome AF: 0.196 AC: 29738 AN: 152084 Hom.: 3673 Cov.: 31 AF XY: 0.190 AC XY: 14154 AN XY: 74356

Gnomad4 AFR AF: 0.353

Gnomad4 AMR AF: 0.129

Gnomad4 ASJ AF: 0.115

Gnomad4 EAS AF: 0.0611

Gnomad4 SAS AF: 0.0950

Gnomad4 FIN AF: 0.148

Gnomad4 NFE AF: 0.147

Gnomad4 OTH AF: 0.167

Alfa AF: 0.174 Hom.: 355

Bravo AF: 0.202

Asia WGS AF: 0.0940 AC: 327 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.8
DANN	Benign	0.79

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: rs8094647; hg19: chr18-47465152;