17-78124950-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001127198.5(TMC6):c.572G>A(p.Gly191Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0695 in 1,598,844 control chromosomes in the GnomAD database, including 4,431 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001127198.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMC6 | NM_001127198.5 | c.572G>A | p.Gly191Asp | missense_variant | 7/20 | ENST00000590602.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMC6 | ENST00000590602.6 | c.572G>A | p.Gly191Asp | missense_variant | 7/20 | 2 | NM_001127198.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0925 AC: 14074AN: 152196Hom.: 857 Cov.: 34
GnomAD3 exomes AF: 0.0657 AC: 14267AN: 217266Hom.: 531 AF XY: 0.0644 AC XY: 7689AN XY: 119430
GnomAD4 exome AF: 0.0671 AC: 96994AN: 1446530Hom.: 3571 Cov.: 34 AF XY: 0.0660 AC XY: 47465AN XY: 718814
GnomAD4 genome AF: 0.0925 AC: 14082AN: 152314Hom.: 860 Cov.: 34 AF XY: 0.0924 AC XY: 6882AN XY: 74472
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 09, 2018 | - - |
Epidermodysplasia verruciformis Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at