rs61753849
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_005379.4(MYO1A):c.1155G>T(p.Glu385Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000109 in 1,613,446 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E385V) has been classified as Uncertain significance.
Frequency
Consequence
NM_005379.4 missense
Scores
Clinical Significance
Conservation
Publications
- nonsyndromic genetic hearing lossInheritance: AD Classification: NO_KNOWN Submitted by: ClinGen
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO1A | NM_005379.4 | c.1155G>T | p.Glu385Asp | missense_variant | Exon 13 of 28 | ENST00000300119.8 | NP_005370.1 | |
MYO1A | NM_001256041.2 | c.1155G>T | p.Glu385Asp | missense_variant | Exon 14 of 29 | NP_001242970.1 | ||
MYO1A | XM_047428876.1 | c.1155G>T | p.Glu385Asp | missense_variant | Exon 14 of 29 | XP_047284832.1 | ||
MYO1A | XM_011538373.3 | c.1155G>T | p.Glu385Asp | missense_variant | Exon 13 of 25 | XP_011536675.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO1A | ENST00000300119.8 | c.1155G>T | p.Glu385Asp | missense_variant | Exon 13 of 28 | 1 | NM_005379.4 | ENSP00000300119.3 | ||
MYO1A | ENST00000442789.6 | c.1155G>T | p.Glu385Asp | missense_variant | Exon 14 of 29 | 1 | ENSP00000393392.2 | |||
MYO1A | ENST00000554234.5 | n.669G>T | non_coding_transcript_exon_variant | Exon 9 of 24 | 5 | ENSP00000451033.1 | ||||
MYO1A | ENST00000492945.5 | c.*22G>T | downstream_gene_variant | 4 | ENSP00000452229.1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152138Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000107 AC: 27AN: 251450 AF XY: 0.0000736 show subpopulations
GnomAD4 exome AF: 0.000111 AC: 162AN: 1461308Hom.: 0 Cov.: 31 AF XY: 0.000109 AC XY: 79AN XY: 726998 show subpopulations
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74310 show subpopulations
ClinVar
Submissions by phenotype
Autosomal dominant nonsyndromic hearing loss 48 Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at