ENST00000399342.6:n.206+19366A>T

Variant names:

• chr17-10425643-A-T
• rs11078846
• ENST00000399342.6:n.206+19366A>T

Variant summary

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

The ENST00000399342.6(MYHAS):​n.206+19366A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.391 in 151,448 control chromosomes in the GnomAD database, including 12,636 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 0.39 (12636 hom., cov: 32)
• Consequence: MYHAS ENST00000399342.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.107
• Publications: 1 publications found

Genes affected

MYHAS (HGNC:50609): (myosin heavy chain gene cluster antisense RNA) Predicted to enable primary miRNA binding activity. Predicted to be involved in response to muscle activity and skeletal muscle fiber development. Predicted to act upstream of or within with a positive effect on gene expression. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.845 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000399342.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MYHAS	NR_125367.1		n.167+19405A>T		intron	N/A

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MYHAS	ENST00000399342.6	TSL:3	n.206+19366A>T		intron	N/A
	MYHAS	ENST00000581304.2	TSL:3	n.143+19405A>T		intron	N/A
	MYHAS	ENST00000584139.2	TSL:3	n.530+19405A>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.391 AC: 59196 AN: 151330 Hom.: 12624 Cov.: 32

Gnomad AFR AF: 0.318

Gnomad AMI AF: 0.411

Gnomad AMR AF: 0.462

Gnomad ASJ AF: 0.395

Gnomad EAS AF: 0.867

Gnomad SAS AF: 0.636

Gnomad FIN AF: 0.436

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.359

Gnomad OTH AF: 0.372

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

GnomAD4 genome AF: 0.391 AC: 59251 AN: 151448 Hom.: 12636 Cov.: 32 AF XY: 0.405 AC XY: 29977 AN XY: 74032

African (AFR) AF: 0.318 AC: 13175 AN: 41430

American (AMR) AF: 0.462 AC: 7019 AN: 15182

Ashkenazi Jewish (ASJ) AF: 0.395 AC: 1369 AN: 3462

East Asian (EAS) AF: 0.866 AC: 4479 AN: 5172

South Asian (SAS) AF: 0.635 AC: 3057 AN: 4812

European-Finnish (FIN) AF: 0.436 AC: 4597 AN: 10552

Middle Eastern (MID) AF: 0.415 AC: 122 AN: 294

European-Non Finnish (NFE) AF: 0.359 AC: 24271 AN: 67528

Other (OTH) AF: 0.374 AC: 787 AN: 2104

Alfa AF: 0.363 Hom.: 1255

Bravo AF: 0.387

Asia WGS AF: 0.716 AC: 2481 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.24
DANN	Benign	0.27
PhyloP100		-0.11

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs11078846; hg19: chr17-10328960; COSMIC: COSV67961961;