3-108383733-T-TAAA

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

The NM_014981.3(MYH15):​c.5632-7_5632-5dupTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000269 in 1,031,912 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.000050 ( 0 hom., cov: 29)
Exomes 𝑓: 0.00027 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

MYH15
NM_014981.3 splice_region, intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.240
Variant links:
Genes affected
MYH15 (HGNC:31073): (myosin heavy chain 15) Predicted to enable several functions, including ATP binding activity; actin filament binding activity; and calmodulin binding activity. Predicted to be involved in extraocular skeletal muscle development. Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -4 ACMG points.

BS2
High AC in GnomAdExome4 at 278 AD gene.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
MYH15NM_014981.3 linkc.5632-7_5632-5dupTTT splice_region_variant, intron_variant Intron 39 of 40 ENST00000693548.1 NP_055796.2 Q9Y2K3
MYH15XM_011512559.3 linkc.5692-7_5692-5dupTTT splice_region_variant, intron_variant Intron 41 of 42 XP_011510861.1 Q9Y2K3
LOC124900545XR_007095998.1 linkn.112+2085_112+2087dupAAA intron_variant Intron 1 of 1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
MYH15ENST00000693548.1 linkc.5632-5_5632-4insTTT splice_region_variant, intron_variant Intron 39 of 40 NM_014981.3 ENSP00000508967.1 A0A8I5KXJ3
MYH15ENST00000273353.5 linkc.5632-5_5632-4insTTT splice_region_variant, intron_variant Intron 40 of 41 1 ENSP00000273353.4 Q9Y2K3
MYH15ENST00000689784.1 linkc.4651-5_4651-4insTTT splice_region_variant, intron_variant Intron 31 of 32 ENSP00000509841.1 A0A8I5KYE8

Frequencies

GnomAD3 genomes
AF:
0.00
AC:
3
AN:
59450
Hom.:
0
Cov.:
29
FAILED QC
Gnomad AFR
AF:
0.0000865
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000212
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00
Gnomad OTH
AF:
0.00
GnomAD3 exomes
AF:
0.000588
AC:
33
AN:
56170
Hom.:
0
AF XY:
0.000751
AC XY:
23
AN XY:
30628
show subpopulations
Gnomad AFR exome
AF:
0.00
Gnomad AMR exome
AF:
0.000579
Gnomad ASJ exome
AF:
0.00115
Gnomad EAS exome
AF:
0.00186
Gnomad SAS exome
AF:
0.00166
Gnomad FIN exome
AF:
0.000277
Gnomad NFE exome
AF:
0.000424
Gnomad OTH exome
AF:
0.00184
GnomAD4 exome
AF:
0.000269
AC:
278
AN:
1031912
Hom.:
0
Cov.:
31
AF XY:
0.000279
AC XY:
141
AN XY:
505438
show subpopulations
Gnomad4 AFR exome
AF:
0.000118
Gnomad4 AMR exome
AF:
0.000748
Gnomad4 ASJ exome
AF:
0.000677
Gnomad4 EAS exome
AF:
0.000408
Gnomad4 SAS exome
AF:
0.000898
Gnomad4 FIN exome
AF:
0.000179
Gnomad4 NFE exome
AF:
0.000228
Gnomad4 OTH exome
AF:
0.000214
GnomAD4 genome
Data not reliable, filtered out with message: AS_VQSR
AF:
0.0000505
AC:
3
AN:
59450
Hom.:
0
Cov.:
29
AF XY:
0.0000713
AC XY:
2
AN XY:
28046
show subpopulations
Gnomad4 AFR
AF:
0.0000865
Gnomad4 AMR
AF:
0.000212
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.00
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs377049870; hg19: chr3-108102580; API