chr17-12739270-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001146312.3(MYOCD):c.659C>T(p.Ala220Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000023 in 1,608,584 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_001146312.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYOCD | NM_001146312.3 | c.659C>T | p.Ala220Val | missense_variant | 7/14 | ENST00000425538.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYOCD | ENST00000425538.6 | c.659C>T | p.Ala220Val | missense_variant | 7/14 | 1 | NM_001146312.3 | P2 | |
MYOCD | ENST00000343344.8 | c.659C>T | p.Ala220Val | missense_variant | 7/13 | 1 | A2 | ||
MYOCD | ENST00000395988.1 | n.579C>T | non_coding_transcript_exon_variant | 4/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152058Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000489 AC: 12AN: 245642Hom.: 0 AF XY: 0.0000301 AC XY: 4AN XY: 132786
GnomAD4 exome AF: 0.0000247 AC: 36AN: 1456526Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 724466
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152058Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74270
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 13, 2023 | The c.659C>T (p.A220V) alteration is located in exon 7 (coding exon 7) of the MYOCD gene. This alteration results from a C to T substitution at nucleotide position 659, causing the alanine (A) at amino acid position 220 to be replaced by a valine (V). 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