rs72650080
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_StrongBP6_Moderate
The NM_001267550.2(TTN):c.42304G>A(p.Ala14102Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,613,066 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.42304G>A | p.Ala14102Thr | missense_variant | 230/363 | ENST00000589042.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.42304G>A | p.Ala14102Thr | missense_variant | 230/363 | 5 | NM_001267550.2 | P1 | |
TTN-AS1 | ENST00000659121.1 | n.502+36796C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 151956Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248146Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134602
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461110Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 726858
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 151956Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74186
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Feb 16, 2015 | p.Ala11534Thr in exon 179 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 6 mammals (Tibetan antelope, cow, sheep, domestic goat, horse, white rhin oceros) have a threonine (Thr) at this position despite high nearby amino acid c onservation. In addition, computational prediction tools do not suggest a high l ikelihood of impact to the protein. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at