rs1411193128
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032439.4(PHYHIPL):c.784C>A(p.Pro262Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,828 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P262S) has been classified as Uncertain significance.
Frequency
Consequence
NM_032439.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PHYHIPL | ENST00000373880.9 | c.784C>A | p.Pro262Thr | missense_variant | Exon 5 of 5 | 1 | NM_032439.4 | ENSP00000362987.4 | ||
PHYHIPL | ENST00000373878.3 | c.706C>A | p.Pro236Thr | missense_variant | Exon 5 of 5 | 1 | ENSP00000362985.3 | |||
PHYHIPL | ENST00000486074.2 | n.*725C>A | non_coding_transcript_exon_variant | Exon 6 of 6 | 2 | ENSP00000423634.1 | ||||
PHYHIPL | ENST00000486074.2 | n.*725C>A | 3_prime_UTR_variant | Exon 6 of 6 | 2 | ENSP00000423634.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461828Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727222
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.