rs373327248
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_000260.4(MYO7A):c.1623C>A(p.Pro541=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,690 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P541P) has been classified as Likely benign.
Frequency
Consequence
NM_000260.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO7A | NM_000260.4 | c.1623C>A | p.Pro541= | synonymous_variant | 14/49 | ENST00000409709.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO7A | ENST00000409709.9 | c.1623C>A | p.Pro541= | synonymous_variant | 14/49 | 1 | NM_000260.4 | ||
MYO7A | ENST00000458637.6 | c.1623C>A | p.Pro541= | synonymous_variant | 14/49 | 1 | P1 | ||
MYO7A | ENST00000409619.6 | c.1590C>A | p.Pro530= | synonymous_variant | 15/50 | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249268Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135224
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461690Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727130
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Mar 07, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at