rs80354176
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001127198.5(TMC6):c.704A>G(p.Lys235Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0016 in 1,596,534 control chromosomes in the GnomAD database, including 66 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K235T) has been classified as Uncertain significance.
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.704A>G | p.Lys235Arg | missense_variant | 8/20 | ENST00000590602.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMC6 | ENST00000590602.6 | c.704A>G | p.Lys235Arg | missense_variant | 8/20 | 2 | NM_001127198.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00200 AC: 305AN: 152190Hom.: 6 Cov.: 33
GnomAD3 exomes AF: 0.00504 AC: 1080AN: 214148Hom.: 41 AF XY: 0.00458 AC XY: 534AN XY: 116618
GnomAD4 exome AF: 0.00156 AC: 2248AN: 1444226Hom.: 60 Cov.: 33 AF XY: 0.00151 AC XY: 1085AN XY: 717038
GnomAD4 genome ? AF: 0.00200 AC: 304AN: 152308Hom.: 6 Cov.: 33 AF XY: 0.00215 AC XY: 160AN XY: 74470
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 22, 2021 | - - |
Epidermodysplasia verruciformis, susceptibility to, 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Jul 23, 2021 | - - |
Epidermodysplasia verruciformis Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at