rs186620412
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_017534.6(MYH2):c.2698-8A>C variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000407 in 1,614,246 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_017534.6 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH2 | NM_017534.6 | c.2698-8A>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000245503.10 | |||
MYHAS | NR_125367.1 | n.168-37455T>G | intron_variant, non_coding_transcript_variant | ||||
MYH2 | NM_001100112.2 | c.2698-8A>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH2 | ENST00000245503.10 | c.2698-8A>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_017534.6 | P1 | |||
ENST00000399342.6 | n.207-3242T>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00206 AC: 313AN: 152238Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000621 AC: 156AN: 251406Hom.: 1 AF XY: 0.000456 AC XY: 62AN XY: 135882
GnomAD4 exome AF: 0.000237 AC: 347AN: 1461890Hom.: 0 Cov.: 34 AF XY: 0.000219 AC XY: 159AN XY: 727244
GnomAD4 genome ? AF: 0.00203 AC: 310AN: 152356Hom.: 1 Cov.: 32 AF XY: 0.00200 AC XY: 149AN XY: 74508
ClinVar
Submissions by phenotype
Myopathy, proximal, and ophthalmoplegia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 11, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 18, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at