17-10309541-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_003802.3(MYH13):c.4946C>T(p.Thr1649Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000497 in 1,610,858 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003802.3 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 |
---|---|---|---|---|---|---|---|
MYH13 | NM_003802.3 | c.4946C>T | p.Thr1649Met | missense_variant | 34/41 | ENST00000252172.9 | |
LOC107985004 | XR_007065617.1 | n.96-7957G>A | intron_variant, non_coding_transcript_variant | ||||
LOC107985004 | XR_001752791.3 | n.96-7957G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH13 | ENST00000252172.9 | c.4946C>T | p.Thr1649Met | missense_variant | 34/41 | 1 | NM_003802.3 | P1 | |
MYH13 | ENST00000621918.1 | c.4946C>T | p.Thr1649Met | missense_variant | 32/39 | 1 | P1 | ||
ENST00000609088.1 | n.95-7957G>A | intron_variant, non_coding_transcript_variant | 4 | ||||||
MYH13 | ENST00000418404.8 | c.4946C>T | p.Thr1649Met | missense_variant | 33/40 | 5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245602Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133296
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1458492Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 2AN XY: 725316
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152366Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74516
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 18, 2023 | The c.4946C>T (p.T1649M) alteration is located in exon 34 (coding exon 32) of the MYH13 gene. This alteration results from a C to T substitution at nucleotide position 4946, causing the threonine (T) at amino acid position 1649 to be replaced by a methionine (M). 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