rs190390987
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001082538.3(TCTN1):c.1379G>A(p.Ser460Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001082538.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TCTN1 | ENST00000397659.9 | c.1379G>A | p.Ser460Asn | missense_variant | Exon 12 of 15 | 1 | NM_001082538.3 | ENSP00000380779.4 | ||
TCTN1 | ENST00000551590.5 | c.1379G>A | p.Ser460Asn | missense_variant | Exon 12 of 15 | 1 | ENSP00000448735.1 | |||
TCTN1 | ENST00000397655.7 | c.1337G>A | p.Ser446Asn | missense_variant | Exon 12 of 15 | 1 | ENSP00000380775.3 | |||
TCTN1 | ENST00000397656.8 | n.*1012G>A | non_coding_transcript_exon_variant | Exon 13 of 16 | 2 | ENSP00000380776.4 | ||||
TCTN1 | ENST00000480648.5 | n.*655G>A | non_coding_transcript_exon_variant | Exon 13 of 16 | 5 | ENSP00000437196.1 | ||||
TCTN1 | ENST00000495659.6 | n.*1137G>A | non_coding_transcript_exon_variant | Exon 12 of 15 | 2 | ENSP00000436673.2 | ||||
TCTN1 | ENST00000397656.8 | n.*1012G>A | 3_prime_UTR_variant | Exon 13 of 16 | 2 | ENSP00000380776.4 | ||||
TCTN1 | ENST00000480648.5 | n.*655G>A | 3_prime_UTR_variant | Exon 13 of 16 | 5 | ENSP00000437196.1 | ||||
TCTN1 | ENST00000495659.6 | n.*1137G>A | 3_prime_UTR_variant | Exon 12 of 15 | 2 | ENSP00000436673.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461890Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727246
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.