19-50231990-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001145809.2(MYH14):c.1034C>T(p.Ser345Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,461,560 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S345C) has been classified as Likely benign.
Frequency
Consequence
NM_001145809.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH14 | NM_001145809.2 | c.1034C>T | p.Ser345Phe | missense_variant | 10/43 | ENST00000642316.2 | |
MYH14 | NM_001077186.2 | c.1034C>T | p.Ser345Phe | missense_variant | 10/42 | ||
MYH14 | NM_024729.4 | c.1010C>T | p.Ser337Phe | missense_variant | 9/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH14 | ENST00000642316.2 | c.1034C>T | p.Ser345Phe | missense_variant | 10/43 | NM_001145809.2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248998Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135128
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461560Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727058
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at