rs111033198
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP7
The NM_000260.4(MYO7A):c.6070C>A(p.Arg2024Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
MYO7A
NM_000260.4 synonymous
NM_000260.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.45
Genes affected
MYO7A (HGNC:7606): (myosin VIIA) This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.15).
BP7
Synonymous conserved (PhyloP=2.45 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO7A | NM_000260.4 | c.6070C>A | p.Arg2024Arg | synonymous_variant | 45/49 | ENST00000409709.9 | NP_000251.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO7A | ENST00000409709.9 | c.6070C>A | p.Arg2024Arg | synonymous_variant | 45/49 | 1 | NM_000260.4 | ENSP00000386331.3 | ||
MYO7A | ENST00000458637.6 | c.5956C>A | p.Arg1986Arg | synonymous_variant | 45/49 | 1 | ENSP00000392185.2 | |||
MYO7A | ENST00000409619.6 | c.5923C>A | p.Arg1975Arg | synonymous_variant | 46/50 | 1 | ENSP00000386635.2 | |||
MYO7A | ENST00000458169.2 | c.3496C>A | p.Arg1166Arg | synonymous_variant | 25/29 | 1 | ENSP00000417017.2 | |||
MYO7A | ENST00000670577.1 | n.*642C>A | non_coding_transcript_exon_variant | 28/32 | ENSP00000499323.1 | |||||
MYO7A | ENST00000670577.1 | n.*642C>A | 3_prime_UTR_variant | 28/32 | ENSP00000499323.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1432910Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 709746
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
1432910
Hom.:
Cov.:
31
AF XY:
AC XY:
0
AN XY:
709746
Gnomad4 AFR exome
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GnomAD4 genome Cov.: 32
GnomAD4 genome
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Calibrated prediction
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Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.