rs17183113

Positions:

• chr17-32702107-G-A

Variant summary

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

The NM_015194.3(MYO1D):​c.2121+9881C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.143 in 152,166 control chromosomes in the GnomAD database, including 1,987 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 0.14 (1987 hom., cov: 32)
• Consequence: MYO1D NM_015194.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.535

Genes affected

MYO1D (HGNC:7598): (myosin ID) Enables protein domain specific binding activity. Predicted to be involved in actin filament organization; early endosome to recycling endosome transport; and vesicle transport along actin filament. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

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 (SAS) allele frequency at 95% confidence interval = 0.194 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MYO1D	NM_015194.3	c.2121+9881C>T		intron_variant		ENST00000318217.10

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MYO1D	ENST00000318217.10	c.2121+9881C>T		intron_variant		1	NM_015194.3	P1
MYO1D	ENST00000394649.8	c.1857+9881C>T		intron_variant		5
MYO1D	ENST00000579584.5	c.2121+9881C>T		intron_variant		2
MYO1D	ENST00000585094.1	n.321+9881C>T		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.143 AC: 21693 AN: 152048 Hom.: 1984 Cov.: 32

Gnomad AFR AF: 0.0402

Gnomad AMI AF: 0.163

Gnomad AMR AF: 0.175

Gnomad ASJ AF: 0.248

Gnomad EAS AF: 0.00577

Gnomad SAS AF: 0.204

Gnomad FIN AF: 0.169

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.193

Gnomad OTH AF: 0.173

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

GnomAD4 genome AF: 0.143 AC: 21702 AN: 152166 Hom.: 1987 Cov.: 32 AF XY: 0.141 AC XY: 10459 AN XY: 74378

Gnomad4 AFR AF: 0.0401

Gnomad4 AMR AF: 0.175

Gnomad4 ASJ AF: 0.248

Gnomad4 EAS AF: 0.00578

Gnomad4 SAS AF: 0.204

Gnomad4 FIN AF: 0.169

Gnomad4 NFE AF: 0.193

Gnomad4 OTH AF: 0.172

Alfa AF: 0.169 Hom.: 298

Bravo AF: 0.137

Asia WGS AF: 0.107 AC: 373 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	0.72
DANN	Benign	0.57

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: rs17183113; hg19: chr17-31029125;