rs76771282
Variant summary
Our verdict is Benign. The variant received -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001267550.2(TTN):c.19383T>C(p.Asn6461Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00965 in 1,612,620 control chromosomes in the GnomAD database, including 95 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001267550.2 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -21 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001267550.2. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| TTN | NM_001267550.2 | MANE Select | c.19383T>C | p.Asn6461Asn | synonymous | Exon 66 of 363 | NP_001254479.2 | ||
| TTN | NM_001256850.1 | c.18432T>C | p.Asn6144Asn | synonymous | Exon 64 of 313 | NP_001243779.1 | |||
| TTN | NM_133378.4 | c.15651T>C | p.Asn5217Asn | synonymous | Exon 63 of 312 | NP_596869.4 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| TTN | ENST00000589042.5 | TSL:5 MANE Select | c.19383T>C | p.Asn6461Asn | synonymous | Exon 66 of 363 | ENSP00000467141.1 | ||
| TTN | ENST00000446966.2 | TSL:1 | c.19383T>C | p.Asn6461Asn | synonymous | Exon 66 of 361 | ENSP00000408004.2 | ||
| TTN | ENST00000436599.2 | TSL:1 | c.19107T>C | p.Asn6369Asn | synonymous | Exon 64 of 361 | ENSP00000405517.2 |
Frequencies
GnomAD3 genomes AF: 0.00606 AC: 922AN: 152080Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.00623 AC: 1542AN: 247676 AF XY: 0.00638 show subpopulations
GnomAD4 exome AF: 0.0100 AC: 14634AN: 1460422Hom.: 95 Cov.: 32 AF XY: 0.00976 AC XY: 7090AN XY: 726354 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00605 AC: 921AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.00536 AC XY: 399AN XY: 74386 show subpopulations
Age Distribution
ClinVar
ClinVar submissions as Germline
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at