17-10418769-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 5P and 4B. PP2PP3_StrongBS2
The NM_002472.3(MYH8):c.387C>A(p.Asn129Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,613,772 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. N129N) has been classified as Likely benign.
Frequency
Consequence
NM_002472.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH8 | NM_002472.3 | c.387C>A | p.Asn129Lys | missense_variant | 5/40 | ENST00000403437.2 | |
MYHAS | NR_125367.1 | n.167+12531G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH8 | ENST00000403437.2 | c.387C>A | p.Asn129Lys | missense_variant | 5/40 | 5 | NM_002472.3 | P1 | |
ENST00000399342.6 | n.206+12492G>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000581304.1 | n.143+12531G>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 250204Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135546
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461616Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 727108
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 08, 2024 | The c.387C>A (p.N129K) alteration is located in exon 5 (coding exon 3) of the MYH8 gene. This alteration results from a C to A substitution at nucleotide position 387, causing the asparagine (N) at amino acid position 129 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at