6-75817565-C-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS1
The NM_004999.4(MYO6):c.18C>T(p.Pro6Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000669 in 1,613,982 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 (★★).
Frequency
Consequence
NM_004999.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000316 AC: 48AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000171 AC: 43AN: 251436Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135892
GnomAD4 exome AF: 0.0000410 AC: 60AN: 1461852Hom.: 0 Cov.: 31 AF XY: 0.0000371 AC XY: 27AN XY: 727224
GnomAD4 genome AF: 0.000316 AC: 48AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.000377 AC XY: 28AN XY: 74300
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
Pro6Pro in Exon 02 of MYO6: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue, is not located within th e splice consensus sequence, and has been identified in 0.1% (2/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Proj ect (http://evs.gs.washington.edu/EVS; dbSNP rs138024490). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at