rs932678

chr13-108729771-A-Cchr13-108729771-A-Gchr13-108729771-A-T

Variant summary

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

The NM_001198950.3(MYO16):c.507+2188A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.237 in 151,284 control chromosomes in the GnomAD database, including 5,354 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 0.24 (5354 hom., cov: 33)
• Consequence: MYO16 NM_001198950.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.196

Genes affected

MYO16 (HGNC:29822): (myosin XVI) This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017]

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 (EAS) allele frequency at 95% confidence interval = 0.534 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MYO16	NM_001198950.3	c.507+2188A>C		intron_variant		ENST00000457511.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MYO16	ENST00000457511.7	c.507+2188A>C		intron_variant		1	NM_001198950.3	A2
MYO16	ENST00000356711.7	c.441+2188A>C		intron_variant		1		P2
MYO16	ENST00000251041.10	c.441+2188A>C		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.237 AC: 35780 AN: 151170 Hom.: 5341 Cov.: 33

Gnomad AFR AF: 0.0764

Gnomad AMI AF: 0.169

Gnomad AMR AF: 0.353

Gnomad ASJ AF: 0.271

Gnomad EAS AF: 0.552

Gnomad SAS AF: 0.305

Gnomad FIN AF: 0.365

Gnomad MID AF: 0.225

Gnomad NFE AF: 0.257

Gnomad OTH AF: 0.234

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

GnomAD4 genome AF: 0.237 AC: 35794 AN: 151284 Hom.: 5354 Cov.: 33 AF XY: 0.247 AC XY: 18301 AN XY: 73954

Gnomad4 AFR AF: 0.0762

Gnomad4 AMR AF: 0.354

Gnomad4 ASJ AF: 0.271

Gnomad4 EAS AF: 0.551

Gnomad4 SAS AF: 0.305

Gnomad4 FIN AF: 0.365

Gnomad4 NFE AF: 0.257

Gnomad4 OTH AF: 0.235

Alfa AF: 0.213 Hom.: 842

Bravo AF: 0.229

Asia WGS AF: 0.383 AC: 1329 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	7.4
Dann	Benign	0.78

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: rs932678; hg19: chr13-109382119;