rs41492849
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP7BS2_Supporting
The NM_001530.4(HIF1A):c.1692C>T(p.Pro564=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000116 in 1,613,846 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.
Frequency
Consequence
NM_001530.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HIF1A | NM_001530.4 | c.1692C>T | p.Pro564= | synonymous_variant | 12/15 | ENST00000337138.9 | |
HIF1A-AS3 | NR_144368.1 | n.213+10098G>A | intron_variant, non_coding_transcript_variant | ||||
HIF1A | NM_001243084.2 | c.1764C>T | p.Pro588= | synonymous_variant | 12/15 | ||
HIF1A | NM_181054.3 | c.1692C>T | p.Pro564= | synonymous_variant | 12/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HIF1A | ENST00000337138.9 | c.1692C>T | p.Pro564= | synonymous_variant | 12/15 | 1 | NM_001530.4 | P4 | |
HIF1A-AS3 | ENST00000660325.2 | n.215+10098G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000697 AC: 106AN: 152040Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251200Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135774
GnomAD4 exome AF: 0.0000554 AC: 81AN: 1461690Hom.: 0 Cov.: 31 AF XY: 0.0000509 AC XY: 37AN XY: 727144
GnomAD4 genome AF: 0.000697 AC: 106AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.000645 AC XY: 48AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at