5-177306521-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013237.4(PRELID1):c.611C>T(p.Ala204Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,516 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013237.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRELID1 | NM_013237.4 | c.611C>T | p.Ala204Val | missense_variant | Exon 5 of 5 | ENST00000303204.9 | NP_037369.1 | |
PRELID1 | NM_001271828.2 | c.578C>T | p.Ala193Val | missense_variant | Exon 5 of 5 | NP_001258757.1 | ||
MXD3 | NM_001142935.2 | c.*598G>A | 3_prime_UTR_variant | Exon 6 of 6 | NP_001136407.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460516Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 726428
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.611C>T (p.A204V) alteration is located in exon 5 (coding exon 5) of the PRELID1 gene. This alteration results from a C to T substitution at nucleotide position 611, causing the alanine (A) at amino acid position 204 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.