7-2646941-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025250.3(TTYH3):c.212G>T(p.Arg71Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000106 in 1,600,744 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025250.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTYH3 | NM_025250.3 | c.212G>T | p.Arg71Leu | missense_variant | Exon 2 of 14 | ENST00000258796.12 | NP_079526.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTYH3 | ENST00000258796.12 | c.212G>T | p.Arg71Leu | missense_variant | Exon 2 of 14 | 1 | NM_025250.3 | ENSP00000258796.7 | ||
TTYH3 | ENST00000429448.2 | c.212G>T | p.Arg71Leu | missense_variant | Exon 2 of 15 | 2 | ENSP00000413757.2 | |||
TTYH3 | ENST00000407643.5 | c.212G>T | p.Arg71Leu | missense_variant | Exon 2 of 13 | 5 | ENSP00000385316.1 | |||
TTYH3 | ENST00000400376.2 | c.233G>T | p.Arg78Leu | missense_variant | Exon 2 of 3 | 4 | ENSP00000383227.2 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000346 AC: 8AN: 231122Hom.: 0 AF XY: 0.00000790 AC XY: 1AN XY: 126562
GnomAD4 exome AF: 0.000113 AC: 164AN: 1448428Hom.: 0 Cov.: 45 AF XY: 0.000118 AC XY: 85AN XY: 720728
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152316Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.212G>T (p.R71L) alteration is located in exon 2 (coding exon 2) of the TTYH3 gene. This alteration results from a G to T substitution at nucleotide position 212, causing the arginine (R) at amino acid position 71 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at