rs41508050
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001530.4(HIF1A):c.1253C>A(p.Thr418Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001530.4 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HIF1A | NM_001530.4 | c.1253C>A | p.Thr418Lys | missense_variant | 10/15 | ENST00000337138.9 | NP_001521.1 | |
HIF1A-AS3 | NR_144368.1 | n.213+12795G>T | intron_variant, non_coding_transcript_variant | |||||
HIF1A | NM_001243084.2 | c.1325C>A | p.Thr442Lys | missense_variant | 10/15 | NP_001230013.1 | ||
HIF1A | NM_181054.3 | c.1253C>A | p.Thr418Lys | missense_variant | 10/14 | NP_851397.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HIF1A | ENST00000337138.9 | c.1253C>A | p.Thr418Lys | missense_variant | 10/15 | 1 | NM_001530.4 | ENSP00000338018 | P4 | |
HIF1A-AS3 | ENST00000660325.2 | n.215+12795G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at