2-159150479-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033394.3(TANC1):c.605C>T(p.Thr202Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000335 in 1,614,058 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 Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. T202T) has been classified as Likely benign.
Frequency
Consequence
NM_033394.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TANC1 | ENST00000263635.8 | c.605C>T | p.Thr202Met | missense_variant | Exon 7 of 27 | 5 | NM_033394.3 | ENSP00000263635.6 | ||
TANC1 | ENST00000464096.1 | n.1438C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 | |||||
TANC1 | ENST00000465963.1 | n.1843C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249496Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135358
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1461794Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727214
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.605C>T (p.T202M) alteration is located in exon 7 (coding exon 5) of the TANC1 gene. This alteration results from a C to T substitution at nucleotide position 605, causing the threonine (T) at amino acid position 202 to be replaced by a methionine (M). 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