rs747828487
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_001267550.2(TTN):āc.7229A>Gā(p.His2410Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000497 in 1,609,860 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H2410P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001267550.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTN | NM_001267550.2 | c.7229A>G | p.His2410Arg | missense_variant | 31/363 | ENST00000589042.5 | |
TTN | NM_133379.5 | c.7229A>G | p.His2410Arg | missense_variant | 31/46 | ENST00000360870.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTN | ENST00000589042.5 | c.7229A>G | p.His2410Arg | missense_variant | 31/363 | 5 | NM_001267550.2 | P1 | |
TTN | ENST00000360870.10 | c.7229A>G | p.His2410Arg | missense_variant | 31/46 | 5 | NM_133379.5 | ||
TTN-AS1 | ENST00000659121.1 | n.1654-288T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151994Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250848Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135540
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1457866Hom.: 0 Cov.: 33 AF XY: 0.00000551 AC XY: 4AN XY: 725468
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151994Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74242
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at