4-68318532-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001031732.4(YTHDC1):c.1811C>T(p.Pro604Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000844 in 1,611,606 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001031732.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
YTHDC1 | NM_001031732.4 | c.1811C>T | p.Pro604Leu | missense_variant | Exon 15 of 17 | ENST00000344157.9 | NP_001026902.1 | |
YTHDC1 | NM_001330698.2 | c.1835C>T | p.Pro612Leu | missense_variant | Exon 15 of 17 | NP_001317627.1 | ||
YTHDC1 | NM_133370.4 | c.1757C>T | p.Pro586Leu | missense_variant | Exon 14 of 16 | NP_588611.2 | ||
YTHDC1 | XM_005265708.4 | c.1781C>T | p.Pro594Leu | missense_variant | Exon 14 of 16 | XP_005265765.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
YTHDC1 | ENST00000344157.9 | c.1811C>T | p.Pro604Leu | missense_variant | Exon 15 of 17 | 1 | NM_001031732.4 | ENSP00000339245.4 | ||
YTHDC1 | ENST00000355665.7 | c.1757C>T | p.Pro586Leu | missense_variant | Exon 14 of 16 | 1 | ENSP00000347888.3 | |||
YTHDC1 | ENST00000579690.5 | c.1835C>T | p.Pro612Leu | missense_variant | Exon 15 of 17 | 5 | ENSP00000463982.1 | |||
YTHDC1 | ENST00000507529.1 | c.80C>T | p.Pro27Leu | missense_variant | Exon 2 of 3 | 3 | ENSP00000461990.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000521 AC: 13AN: 249648Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135188
GnomAD4 exome AF: 0.0000911 AC: 133AN: 1459428Hom.: 0 Cov.: 31 AF XY: 0.0000868 AC XY: 63AN XY: 726004
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1811C>T (p.P604L) alteration is located in exon 15 (coding exon 15) of the YTHDC1 gene. This alteration results from a C to T substitution at nucleotide position 1811, causing the proline (P) at amino acid position 604 to be replaced by a leucine (L). 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