rs2118674

Variant names:

• chr2-170462384-A-T
• rs2118674
• NM_138995.5:c.2731-984A>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_138995.5(MYO3B):​c.2731-984A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.874 in 152,236 control chromosomes in the GnomAD database, including 59,492 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 0.87 (59492 hom., cov: 33)
• Consequence: MYO3B NM_138995.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.240
• Publications: 7 publications found

Genes affected

MYO3B (HGNC:15576): (myosin IIIB) This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.96 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_138995.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MYO3B	NM_138995.5	MANE Select	c.2731-984A>T		intron	N/A	NP_620482.3	Q8WXR4-1
	MYO3B	NM_001083615.4		c.2731-984A>T		intron	N/A	NP_001077084.2	Q8WXR4-4
	MYO3B	NR_045682.2		n.2872-984A>T		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MYO3B	ENST00000408978.9	TSL:1 MANE Select	c.2731-984A>T		intron	N/A	ENSP00000386213.4	Q8WXR4-1
	MYO3B	ENST00000409044.7	TSL:1	c.2731-984A>T		intron	N/A	ENSP00000386497.3	Q8WXR4-4
	MYO3B	ENST00000409940.6	TSL:1	n.2874-984A>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.874 AC: 132960 AN: 152118 Hom.: 59473 Cov.: 33

Gnomad AFR AF: 0.667

Gnomad AMI AF: 0.986

Gnomad AMR AF: 0.935

Gnomad ASJ AF: 0.919

Gnomad EAS AF: 0.763

Gnomad SAS AF: 0.964

Gnomad FIN AF: 0.988

Gnomad MID AF: 0.908

Gnomad NFE AF: 0.966

Gnomad OTH AF: 0.890

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

GnomAD4 genome AF: 0.874 AC: 133025 AN: 152236 Hom.: 59492 Cov.: 33 AF XY: 0.876 AC XY: 65248 AN XY: 74450

African (AFR) AF: 0.666 AC: 27637 AN: 41480

American (AMR) AF: 0.935 AC: 14308 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.919 AC: 3191 AN: 3472

East Asian (EAS) AF: 0.763 AC: 3953 AN: 5178

South Asian (SAS) AF: 0.964 AC: 4654 AN: 4828

European-Finnish (FIN) AF: 0.988 AC: 10484 AN: 10614

Middle Eastern (MID) AF: 0.918 AC: 270 AN: 294

European-Non Finnish (NFE) AF: 0.966 AC: 65754 AN: 68040

Other (OTH) AF: 0.886 AC: 1875 AN: 2116

Alfa AF: 0.916 Hom.: 8139

Bravo AF: 0.857

Asia WGS AF: 0.858 AC: 2985 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.081
DANN	Benign	0.62
PhyloP100		-0.24
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs2118674; hg19: chr2-171318894;